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Komarova, Svetlana Yurievna, and Svetlana Vladimirovna Pichugova. "The Germinal Epithelium of the Testis in Children with Cryptorchidism in the Ultrastructural Section." Vestnik of Experimental and Clinical Surgery 10, no. 3 (November 19, 2017): 218–24. http://dx.doi.org/10.18499/2070-478x-2017-10-3-218-224.
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Relevance. Male fertility is largely dependent on the timely testicular descent into the scrotum and the formation of the two major divisions of the testis: interstitial and seminiferous tubules.
The purpose of research - to reveal ultrastructural changes in the germinal epithelium of the testes with cryptorchidism and assess their degree of severity of patients of different age.
Materials and methods. To study the ultrastructure of testis in 30 children with inguinal retention testicular biopsy runtime relegated gonads were done. Before surgery clinically and sonographically determined testicle in the groin area. Children age 1 to 14 years. All the children with unilateral cryptorchidism. In the study of testicular tissue ultrastructural changes in cryptorchidism revealed 3 types of state tubules and germinal epithelium. Changes in type I revealed 4 cases (13%). In type II tubules in the testis revealed mixed cell type: along with light cells therein are determined cells with dark cytoplasm and signs of destruction - 13 boys (46.4%). In 11 (37%) boys identified type III tubules dominated cells with signs of degradation.
Conclusions. The study revealed destructive changes of the germinal epithelium of the seminiferous tubules with cryptorchidism: vacuolization of cytoplasm, cytoplasmic foci of local degradation of the matrix, swelling of mitochondria, cristae destruction and devastation of the mitochondrial matrix, pycnosis cores and peritubular interstitial testicular sclerosis, signs of microcirculation disorders.
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Fisher, B. G., A. Thankamony, J. Mendiola, C. J. Petry, H. Frederiksen, A. M. Andersson, A. Juul, et al. "Maternal serum concentrations of bisphenol A and propyl paraben in early pregnancy are associated with male infant genital development." Human Reproduction 35, no. 4 (April 2020): 913–28. http://dx.doi.org/10.1093/humrep/deaa045.
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Abstract STUDY QUESTION Are maternal serum phthalate metabolite, phenol and paraben concentrations measured at 10–17 weeks of gestation associated with male infant genital developmental outcomes, specifically cryptorchidism, anogenital distance (AGD), penile length and testicular descent distance, at birth and postnatally? SUMMARY ANSWER Maternal serum bisphenol A (BPA) concentration at 10–17 weeks of gestation was positively associated with congenital or postnatally acquired cryptorchidism, and n-propyl paraben (n-PrP) concentration was associated with shorter AGD from birth to 24 months of age. WHAT IS KNOWN ALREADY Male reproductive disorders are increasing in prevalence, which may reflect environmental influences on foetal testicular development. Animal studies have implicated phthalates, BPA and parabens, to which humans are ubiquitously exposed. However, epidemiological studies have generated conflicting results and have often been limited by small sample size and/or measurement of chemical exposures outside the most relevant developmental window. STUDY DESIGN, SIZE, DURATION Case–control study of cryptorchidism nested within a prospective cohort study (Cambridge Baby Growth Study), with recruitment of pregnant women at 10–17 postmenstrual weeks of gestation from a single UK maternity unit between 2001 and 2009 and 24 months of infant follow-up. Of 2229 recruited women, 1640 continued with the infancy study after delivery, of whom 330 mothers of 334 male infants (30 with congenital cryptorchidism, 25 with postnatally acquired cryptorchidism and 279 unmatched controls) were included in the present analysis. PARTICIPANTS/MATERIALS, SETTING, METHODS Maternal blood was collected at enrolment, and serum levels of 16 phthalate metabolites, 9 phenols (including BPA) and 6 parabens were measured using liquid chromatography/tandem mass spectrometry. Logistic regression was used to model the association of cryptorchidism with serum chemical concentrations, adjusting for putative confounders. Additionally, offspring AGD, penile length and testicular descent distance were assessed at 0, 3, 12, 18 and 24 months of age, and age-specific Z scores were calculated. Associations between serum chemical levels and these outcomes were tested using linear mixed models. MAIN RESULTS AND THE ROLE OF CHANCE Maternal serum BPA concentration was associated with offspring all-type cryptorchidism both when considered as a continuous exposure (adjusted odds ratio per log10 μg/l: 2.90, 95% CI 1.31–6.43, P = 0.009) and as quartiles (phet = 0.002). Detection of n-PrP in maternal serum was associated with shorter AGD (by 0.242 standard deviations, 95% CI 0.051–0.433, P = 0.01) from birth to 24 months of age; this reduction was independent of body size and other putative confounders. We did not find any consistent associations with offspring outcomes for the other phenols, parabens, and phthalate metabolites measured. LIMITATIONS, REASONS FOR CAUTION We cannot discount confounding by other demographic factors or endocrine-disrupting chemicals. There may have been misclassification of chemical exposure due to use of single serum measurements. The cohort was not fully representative of pregnant women in the UK, particularly in terms of smoking prevalence and maternal ethnicity. WIDER IMPLICATIONS OF THE FINDINGS Our observational findings support experimental evidence that intrauterine exposure to BPA and n-PrP during early gestation may adversely affect male reproductive development. More evidence is required before specific public health recommendations can be made. STUDY FUNDING/COMPETING INTEREST(S) This work was supported by a European Union Framework V programme, the World Cancer Research Fund International, the Medical Research Council (UK), Newlife the Charity for Disabled Children, the Mothercare Group Foundation, Mead Johnson Nutrition and the National Institute for Health Research Cambridge Comprehensive Biomedical Research Centre. Visiting Fellowship (J.M.): Regional Programme ‘Jiménez de la Espada’ for Research Mobility, Cooperation and Internationalization, Seneca Foundation—Science and Technology Agency for the Region of Murcia (No. 20136/EE/17). K.O. is supported by the Medical Research Council (UK) (Unit Programme number: MC_UU_12015/2). The authors declare no conflict of interest.
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Ayers, Katie, Rakesh Kumar, Gorjana Robevska, Shoni Bruell, Katrina Bell, Muneer A. Malik, Ross A. Bathgate, and Andrew Sinclair. "Familial bilateral cryptorchidism is caused by recessive variants in RXFP2." Journal of Medical Genetics 56, no. 11 (June 5, 2019): 727–33. http://dx.doi.org/10.1136/jmedgenet-2019-106203.
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BackgroundCryptorchidism or failure of testicular descent is the most common genitourinary birth defect in males. While both the insulin-like peptide 3 (INSL3) and its receptor, relaxin family peptide receptor 2 (RXFP2), have been demonstrated to control testicular descent in mice, their link to human cryptorchidism is weak, with no clear cause–effect demonstrated.ObjectiveTo identify the genetic cause of a case of familial cryptorchidism.MethodsWe recruited a family in which four boys had isolated bilateral cryptorchidism. A fourth-degree consanguineous union in the family was reported. Whole exome sequencing was carried out for the four affected boys and their parents, and variants that segregated with the disorder and had a link to testis development/descent were analysed. Functional analysis of a RXFP2 variant in cell culture included receptor localisation, ligand binding and cyclic AMP (cAMP) pathway activation.ResultsGenomic analysis revealed a homozygous missense variant in the RXFP2 gene (c.1496G>A .p.Gly499Glu) in all four affected boys and heterozygous in both parents. No other variant with a link to testis biology was found. The RXFP2 variant is rare in genomic databases and predicted to be damaging. It has not been previously reported. Functional analysis demonstrated that the variant protein had poor cell surface expression and failed to bind INSL3 or respond to the ligand with cAMP signalling.ConclusionThis is the first reported genomic analysis of a family with multiple individuals affected with cryptorchidism. It demonstrates that recessive variants in the RXFP2 gene underlie familial cryptorchidism and solidifies the link between this gene and testicular descent in humans.
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Kariappa, Mohan Kumar, Vivek Harihar, Ashwini Rajareddy Kothudum, and Vivekanand Kedarlingayya Hiremath. "Pantaloon Hernia: Obstructed Indirect Component and Direct Component with Cryptorchidism." Case Reports in Surgery 2016 (2016): 1–3. http://dx.doi.org/10.1155/2016/1461425.
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Cryptorchidism is a condition in which one or both testes have not passed down into the scrotal sac. It is categorized as true undescended testis in which testes are present in the normal path of descent, and as ectopic testis, in which testes are present at abnormal site. Common complications of cryptorchidism are testicular torsion, subfertility, inguinal hernia, and testicular cancer. Here we present a rare case of pantaloon hernia of obstructed indirect component and direct component with cryptorchidism.
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Agrawal, Sujan Narayan. "Cryptorchidism: its influence on male fertility and the risk of the testicular tumor." International Surgery Journal 5, no. 10 (September 25, 2018): 3453. http://dx.doi.org/10.18203/2349-2902.isj20184110.
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In the embryonic stage, the testes develop in the abdomen and descend to scrotum, just before or at birth. The undescended testis is the result of the arrest of descent of testis in some part along its path, to the scrotum. The bilateral undescended testis is called Cryptorchidism which means hidden testis. The factors that contribute to the descent of testis includes Gubernaculum testis, the differential growth of abdominal wall, intra-abdominal pressure and temperature, Calcitonin gene-related peptide (CGRP), male sex hormones, insulin-like hormone 3 (INSL3) and maternal gonadotrophins. The descent of testis may become erratic and gives rise to undescended testis, ectopic testis, congenital hernia, and hydrocoele etc. As a rough estimate approximately 2-4% of male infants are born with Cryptorchism, thus making it, one of the most common congenital anomalies, in the male genitalia. It was found that the incidence of azoospermia in unilateral cryptorchidism was 13%, but in untreated bilateral cryptorchidism, it reaches up to 89%. Cryptorchid boys have increased the risk of a testicular tumor, mainly seminoma. Persistent exposure to high temperature in cryptorchidism could allow maturation of the neonatal gonocytes that has failed to mature as spermatogonia or undergo apoptosis. These cells may persist in testes for years together and eventually become carcinoma in situ cells with a high risk of testicular malignancy later in life i.e., 20-40 years of age. This review addresses the cryptorchidism, its influence on fertility and the risk of developing testicular germ cell tumor. The hormonal factors involved in testicular descend or otherwise is also highlighted.
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Sharma, Shreya, Ravikumar Shah, Virendra Patil, Anurag R. Lila, Vijaya Sarathi, Nalini Shah, and Tushar Bandgar. "Gonadotropins for testicular descent in cryptorchid congenital hypogonadotropic hypogonadism males beyond infancy." Journal of Pediatric Endocrinology and Metabolism 34, no. 7 (April 26, 2021): 917–24. http://dx.doi.org/10.1515/jpem-2020-0683.
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Abstract Objectives To study the effect of combined gonadotropin therapy (CGT) on testicular descent ± spermatogenesis in congenital hypogonadotropic hypogonadism (CHH) patients with cryptorchidism beyond infancy. Methods This retrospective cohort study included CHH patients with cryptorchidism [bilateral (n=5) or unilateral (n=1)] treated with CGT for testicular descent ± pubertal induction. All participants were treated with CGT [human menopausal gonadotropin (hMG) and human chorionic gonadotropin (hCG)] with hMG pretreatment in three and monitored for changes in testicular volume (TV), serum total testosterone (T), serum inhibin-B, and sperm concentration. Results Complete testicular descent to the scrotal position was achieved in 5/6 patients (10/11 testes) after 4.7 ± 1.6 months of treatment. There was 44 ± 18%, 97.5% (IQR: 44–195), 10-fold (IQR: 3–19.6), and two-fold (IQR: 1.7–9.3) increase in stretched penile length, ultrasound measured TV, T level, and serum inhibin-B from baseline, respectively. In two pediatric cases, testicular descent occurred with isolated hMG therapy. At the last follow up (median: 23.5, IQR: 10.5–38.7 months), all the descended testes remained in scrotal position. In four pubertal/postpubertal age patients, continuous CGT (18–60 months) yielded T and inhibin-B levels of 16.64 ± 1.46 nmol/l and 106 ± 32.6 pg/mL, respectively. All the three patients with available semen analysis had sperm concentration of ≥5 million/mL and one of them achieved paternity. Conclusions A trial of CGT before orchiopexy may be considered in CHH males with cryptorchidism even beyond the narrow age-window of infancy. CGT may also have beneficial effects on future spermatogenesis and fertility outcomes in these patients.
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Hutson, John M., Bridget R. Southwell, Ruili Li, Gabrielle Lie, Khairul Ismail, George Harisis, and Nan Chen. "The Regulation of Testicular Descent and the Effects of Cryptorchidism." Endocrine Reviews 34, no. 5 (May 10, 2013): 725–52. http://dx.doi.org/10.1210/er.2012-1089.
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Abstract The first half of this review examines the boundary between endocrinology and embryonic development, with the aim of highlighting the way hormones and signaling systems regulate the complex morphological changes to enable the intra-abdominal fetal testes to reach the scrotum. The genitoinguinal ligament, or gubernaculum, first enlarges to hold the testis near the groin, and then it develops limb-bud-like properties and migrates across the pubic region to reach the scrotum. Recent advances show key roles for insulin-like hormone 3 in the first step, with androgen and the genitofemoral nerve involved in the second step. The mammary line may also be involved in initiating the migration. The key events in early postnatal germ cell development are then reviewed because there is mounting evidence for this to be crucial in preventing infertility and malignancy later in life. We review the recent advances in what is known about the etiology of cryptorchidism and summarize the syndromes where a specific molecular cause has been found. Finally, we cover the recent literature on timing of surgery, the issues around acquired cryptorchidism, and the limited role of hormone therapy. We conclude with some observations about the differences between animal models and baby boys with cryptorchidism.
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Rabinowitz, Ronald, and William C. Hulbert. "Consultation with the specialist." Pediatrics In Review 15, no. 7 (July 1, 1994): 272–74. http://dx.doi.org/10.1542/pir.15.7.272.
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Introduction The term cryptorchidism originates from the Greek kryptos (concealed) and orchis (testis). The definition of the term cryptorchidism is appropriate; not only is the testis concealed, but so is much information regarding this common condition. More than 200 years ago, John Hunter described descent of the testis during the last 3 months of gestation and reported that testes that remain in the abdomen are unhealthy and do not function well. He also discussed the possibilities of failure to descend causing testicular abnormality and testicular abnormalities causing failure to descend. Cryptorchidism represents the most common genital abnormality seen by pediatric urologists. The incidence is 1 in 125 boys. The incidence is much higher in premature infants (1 in 3), and the lower the birth weight, the greater the incidence of cryptorchidism. This condition is seen in approximately 1 in 30 full-term infants, but in many of them, the testicles will descend during the first few months of life. There is a higher incidence of cryptorchidism associated with many chromosomal and single gene defects as well as with multiple malformation syndromes. In addition, there is a higher incidence of cryptorchidism in the siblings and sons of those who have or had cryptorchidism. We will describe the anatomy of both the cryptorchid and retractile testis and discuss the embryology of testicular descent, with an emphasis on hormonal factors.
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Sharifiaghdas, Farzaneh, Sepideh Sharifiaghdas, Esmaeil R. Maleki, Behzad Narouie, Abdolsamad Shikhzadeh, and Sarvenaz Mehrabi. "Evaluation of Human Chorionic Gonadotropin (HCG) Therapeutic Results in Patients With Unilateral cryptorchidism (Undescended Testis)." Open Urology & Nephrology Journal 13, no. 1 (May 23, 2020): 13–17. http://dx.doi.org/10.2174/1874303x02013010013.
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Background: Cryptorchidism or undescended testis is an evolutionary defect where one or both testes fail to descend into the scrotum. HCG causes the testes to fail, possibly due to weight gain, an increase in testicular vasculature, and stimulating the testosterone and di-hydro-testosterone. The present study has been conducted to evaluate the therapeutic effects of HCG on patients with unilateral cryptorchidism. Methods: In a prospective descriptive study, 211 patients of 8 months to 7 years old with unilateral cryptorchidism whose parents refused surgery received HCG therapy. The patients were followed up 1 month, 3months, and 12 months after the first injection. They were examined in terms of the location of testes, possible relapses, sides of undescended testes, treatment complications, and HCG therapeutic results. Results: Four weeks after the first injection, 160 patients (75.12%) out of 211 cases had the descent of testes into the inguinal canal and the scrotum. 69.5% of non-palpable abdominal testes descended into the inguinal canal, 69.7% of patients with inguinal testes, 78% of patients with supra inguinal testes and 100% of patients with retractile testis experienced the descent of testes into the scrotum. Conclusion: The therapeutic response to HCG was successful in more than 50% of the cases in all the groups. Therefore, the need for performing surgical procedures on children with unilateral cryptorchidism would be decreased and they can be treated by a cost-effective and less invasive method. Moreover, at least one-year follow-up of the patients is required to ensure outcomes of the treatment.
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Bordoloi, Rashmi Rekha, Roonmoni Deka, and Kunjalal Talukdar. "An anatomical study of descent of testes in fetal cadavers of perinatal period." National Journal of Clinical Anatomy 04, no. 03 (July 2015): 128–33. http://dx.doi.org/10.1055/s-0039-3401566.
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Abstract Background and aims: Undescended testes or Cryptorchidism is a common congenital anomaly of male gonad. In this condition one or both testes fail to descend into the scrotum as the process of descent may get arrested at any point along its normal path. It is a common condition occurring in 1 in 500 individuals. Undescended testis carries a risk of developing seminoma and is prone to injury. Undescended testis also fails to produce mature spermatozoa leading to infertility. Materials and methods: Hundred perinatal human cadavers were collected and meticulously dissected. Results: Undescended testes were found in 30% cases. In 50% cases, left testis descended earlier than the right. Bilateral undescended testes (70%) were more common than unilateral (30%). Unilateral undescended testis was more common on right side (55.5%). Undescended testes were found in the abdomen in 19.61% of cases. In 50.98% of cases, they were located in the ingoina1region and in the remaining 29.41% of cases, they were found in the subinguinal position. Conclusion : The primary management of cryptorchidism is surgery which is called orchipexy and is usually performed in infancy. When the undescended testis is in the inguinal canal, hormone therapy is sometimes attempted and occasionally successful. Therefore through early diagnosis and surgical interventions, the undescended testes can be replaced to the scrotum that will ensure optimal fertility in adulthood and a considerable lessened risk of testicular carcinoma.
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Shin, Jaeho, and Ga Won Jeon. "Comparison of diagnostic and treatment guidelines for undescended testis." Clinical and Experimental Pediatrics 63, no. 11 (November 15, 2020): 415–21. http://dx.doi.org/10.3345/cep.2019.01438.
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Cryptorchidism or undescended testis is the single most common genitourinary disease in male neonates. In most cases, the testes will descend spontaneously by 3 months of age. If the testes do not descend by 6 months of age, the probability of spontaneous descent thereafter is low. About 1%–2% of boys older than 6 months have undescended testes after their early postnatal descent. In some cases, a testis vanishes in the abdomen or reascends after birth which was present in the scrotum at birth. An inguinal undescended testis is sometimes mistaken for an inguinal hernia. A surgical specialist referral is recommended if descent does not occur by 6 months, undescended testis is newly diagnosed after 6 months of age, or testicular torsion is suspected. International guidelines do not recommend ultrasonography or other diagnostic imaging because they cannot add diagnostic accuracy or change treatment. Routine hormonal therapy is not recommended for undescended testis due to a lack of evidence. Orchiopexy is recommended between 6 and 18 months at the latest to protect the fertility potential and decrease the risk of malignant changes. Patients with unilateral undescended testis have an infertility rate of up to 10%. This rate is even higher in patients with bilateral undescended testes, with intra-abdominal undescended testis, or who underwent delayed orchiopexy. Patients with undescended testis have a threefold increased risk of testicular cancer later in life compared to the general population. Self-examination after puberty is recommended to facilitate early cancer detection. A timely referral to a surgical specialist and timely surgical correction are the most important factors for decreasing infertility and testicular cancer rates.
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Kaftanovskaya, Elena M., Zaohua Huang, Agustin M. Barbara, Karel De Gendt, Guido Verhoeven, Ivan P. Gorlov, and Alexander I. Agoulnik. "Cryptorchidism in Mice with an Androgen Receptor Ablation in Gubernaculum Testis." Molecular Endocrinology 26, no. 4 (April 1, 2012): 598–607. http://dx.doi.org/10.1210/me.2011-1283.
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Abstract Androgens play a critical role in the development of the male reproductive system, including the positioning of the gonads. It is not clear, however, which developmental processes are influenced by androgens and what are the target tissues and cells mediating androgen signaling during testicular descent. Using a Cre-loxP approach, we have produced male mice (GU-ARKO) with conditional inactivation of the androgen receptor (Ar) gene in the gubernacular ligament connecting the epididymis to the caudal abdominal wall. The GU-ARKO males had normal testosterone levels but developed cryptorchidism with the testes located in a suprascrotal position. Although initially subfertile, the GU-ARKO males became sterile with age. We have shown that during development, the mutant gubernaculum failed to undergo eversion, a process giving rise to the processus vaginalis, a peritoneal outpouching inside the scrotum. As a result, the cremasteric sac did not form properly, and the testes remained in the low abdominal position. Abnormal development of the cremaster muscles in the GU-ARKO males suggested the participation of androgens in myogenic differentiation; however, males with conditional AR inactivation in the striated or smooth muscle cells had a normal testicular descent. Gene expression analysis showed that AR deficiency in GU-ARKO males led to the misexpression of genes involved in muscle differentiation, cell signaling, and extracellular space remodeling. We therefore conclude that AR signaling in gubernacular cells is required for gubernaculum eversion and outgrowth. The GU-ARKO mice provide a valuable model of isolated cryptorchidism, one of the most common birth defects in newborn boys.
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Zimmermann, Stephan, Gerd Steding, Judith M. A. Emmen, Albert O. Brinkmann, Karim Nayernia, Adolf F. Holstein, Wolfgang Engel, and Ibrahim M. Adham. "Targeted Disruption of the Insl3 Gene Causes Bilateral Cryptorchidism." Molecular Endocrinology 13, no. 5 (May 1, 1999): 681–91. http://dx.doi.org/10.1210/mend.13.5.0272.
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Abstract The sexual dimorphic position of the gonads in mammals is dependent on differential development of two ligaments, the cranial suspensory ligament (CSL) and the gubernaculum. During male embryogenesis, outgrowth of the gubernaculum and regression of the CSL result in transabdominal descent of the testes, whereas in the female, development of the CSL in conjunction with failure of the gubernaculum development holds the ovaries in a position lateral to the kidneys. Several lines of evidence suggest that regression of the CSL and induction of gubernaculum development are mediated by testosterone and a yet unidentified testicular factor, respectively. The Insl3 gene (orginally designated Ley I-L), a member of the insulin-like superfamily, is specifically expressed in Leydig cells of the fetal and postnatal testis and in theca cells of the postnatal ovary. Here we show that male mice homozygous for a targeted deletion of the Insl3 locus exhibit bilateral cryptorchidism with free moving testes and genital ducts. These malformations are due to failure of gubernaculum development during embryogenesis. In double-mutant male mice for Insl3 and androgen receptor genes, testes are positioned adjacent to the kidneys and steadied in the abdomen by the CSL. These findings demonstrate, that the Insl3 induces gubernaculum development in an androgen-independent way, while androgen-mediated regression of the CSL occurs independently from Insl3.
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Sinopidis, Xenophon, Antonios Panagidis, Eleni Kourea, Eirini Kostopoulou, Andrea Paola Rojas-Gil, Spyros Skiadopoulos, George Georgiou, and Bessie E. Spiliotis. "New insights into the expression of androgen and estrogen receptors of the appendix testis in congenital cryptorchidism." Journal of Pediatric Endocrinology and Metabolism 33, no. 4 (April 28, 2020): 503–8. http://dx.doi.org/10.1515/jpem-2019-0392.
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AbstractBackgroundThe appendix testis (AT) is the most common vestigial remnant of the human testis. Variations in the presence and expression of AT androgen receptor (AR) and estrogen receptor (ER) have been reported in cryptorchidism. We studied the possible association of AR and ER expression of the AT with cryptorchidism.MethodsATs were resected from 40 boys who underwent inguinoscrotal surgery, (20 patients with congenital unilateral cryptorchidism [UC] and 20 controls with orthotopic testes and hydrocele). AR and ER expression was evaluated with immunohistochemistry, and the percentage and intensity of AR and ER expression were evaluated by the Allred scoring method. AT length was compared between the two groups. Correlation of AR and ER expression was evaluated independently in patients and controls.ResultsThe Allred score for AR trended toward lower values in UC compared to controls (p = 0.193), while ER scores presented statistically significant lower values in UC compared to controls (p = 0.017). No significant difference or trend was found in the expression of both receptors between high and low cryptorchidism (p = 0.981 for AR, p = 0.824 for ER) and for the appendiceal length between UC and controls (p = 0.369).ConclusionsThe findings of a trend for lower AR expression and a statistically significant lower expression of ER in UC may suggest an association of AR and ER with cryptorchidism and may provide an insight into the process of testicular descent.
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Büllesbach, Erika E., Fredric R. Boockfor, George Fullbright, and Christian Schwabe. "Cryptorchidism induced in normal rats by the relaxin-like factor inhibitor." REPRODUCTION 135, no. 3 (March 2008): 351–55. http://dx.doi.org/10.1530/rep-07-0330.
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Cryptorchidism is a serious problem, which affects 2–5% of the male population. Failure of the testes to descend into the scrotal region impairs germ cell development and is associated with a greater incidence of testicular cancer. The relaxin-like factor (RLF or insulin-like-3) has been shown to be critically important for the timely descent of the testicles in mice. We have discovered that the signal initiation site of the RLF can be eliminated without measurable effects on hormone binding to its receptor and that the resulting RLF derivative is a competitive inhibitor of RLF called RLFi. RLFi administered to pregnant rats causes dose-dependent gonadal retention in the offspring. The ability to control the severity of the syndrome by altering the concentration of RLFi and the timing of administration enables us to study in detail the structural changes that are associated with the action of RLF during critical stages of development. Targeted inhibition of the physiological migration pattern of testicles by RLFi lets one dissect the physiological process such as to find a window for clinical application of RLF and to search for ancillary factors that might play a role during normal development.
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Kaftanovskaya, Elena M., Shu Feng, Zaohua Huang, Yingchun Tan, Agustin M. Barbara, Sukhjinder Kaur, Anne Truong, Ivan P. Gorlov, and Alexander I. Agoulnik. "Suppression of Insulin-Like3 Receptor Reveals the Role of β-Catenin and Notch Signaling in Gubernaculum Development." Molecular Endocrinology 25, no. 1 (January 1, 2011): 170–83. http://dx.doi.org/10.1210/me.2010-0330.
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During male development, the testes move from a high intraabdominal position and descend into the scrotum. The gubernaculum, an inguinoscrotal ligament connecting the testis to the lower abdomen, is believed to play a critical role in this process. The first stage of testicular descent is controlled by insulin like3 hormone (INSL3), produced in testicular Leydig cells. Deletion of Insl3 or its receptor, Rxfp2, in mice causes cryptorchidism. We produced Cre/loxP regulated shRNA transgenic mice targeting RXFP2 expression. We have shown that the transgene was able to reduce Rxfp2 gene expression and thus behaved as a hypomorphic allele of Rxfp2. Variable degrees of uni- and bilateral cryptorchidism was detected in males with the activated shRNA transgene on an Rxfp2+/− background. Conditional suppression of Rxfp2 in the gubernaculum led to cryptorchidism. Gene expression analysis of a mutant cremasteric sac using Illumina microarrays indicated abnormal expression of a significant number of genes in Wnt/β-catenin and Notch pathways. We have demonstrated profound changes in the expression pattern of β-catenin, Notch1, desmin, and androgen receptor (AR), in Rxfp2−/− male embryos, indicating the role of INSL3 in proliferation, differentiation, and survival of specific cellular components of the gubernaculum. We have shown that INSL3/RXFP2 signaling is essential for myogenic differentiation and maintenance of AR-positive cells in the gubernaculum. Males with the deletion of β-catenin or Notch1 in the gubernacular ligament demonstrated abnormal development. Our data indicates that β-catenin and Notch pathways are potential targets of INSL3 signaling during gubernacular development.
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McKinnell, Chris, Richard M. Sharpe, Kim Mahood, Nina Hallmark, Hayley Scott, Richard Ivell, Christophe Staub, et al. "Expression of Insulin-Like Factor 3 Protein in the Rat Testis during Fetal and Postnatal Development and in Relation to Cryptorchidism Induced by in Utero Exposure to Di (n-Butyl) Phthalate." Endocrinology 146, no. 10 (October 1, 2005): 4536–44. http://dx.doi.org/10.1210/en.2005-0676.
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Cryptorchidism is a common reproductive abnormality, possibly resulting from abnormal hormone production/action by the fetal testis. Insulin-like factor 3 (Insl3) is thought to be involved in gubernaculum development and transabdominal testicular descent, but its importance is unclear, due partly to lack of suitable Insl3 antibodies. We generated (by genetic immunization) and validated a novel antirat Insl3 antibody, which we used to characterize immunoexpression of Insl3 in rat Leydig cells (LCs) from fetal life until adulthood and its relationship to cryptorchidism. Immunoexpression was strong on embryonic day (E) 17.5 and E19.5 and from 35 d of age onward but weak from E21.5 until puberty. Because in utero exposure to di (n-butyl) phthalate (DBP) induces cryptorchidism and suppresses Insl3 gene expression, we investigated Insl3 protein expression in fetal and adult rats exposed to 500 mg/kg·d DBP from E13.5 to E21.5. Expression on E17.5 and E19.5 decreased dramatically after DBP exposure, but there was no consistent correlation between this suppression and abnormal testis position. We also compared expression of Insl3 and P450 side-chain cleavage enzyme in fetal testes from rats exposed in utero to DBP or flutamide (50 mg/kg·d). DBP treatment suppressed expression of both P450 side-chain cleavage enzyme and Insl3 at E19.5, but flutamide exposure had no effect on either protein, demonstrating that Insl3 expression in fetal rat LCs is not androgen regulated. In adult rats, Insl3 expression was suppressed in 80% of cryptorchid and 50% of scrotal testes from rats exposed to DBP, suggesting that prenatal DBP exposure also leads to maldevelopment/malfunction of the adult LC population in some animals.
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Anand-Ivell, Ravinder, and Richard Ivell. "Insulin-like factor 3 as a monitor of endocrine disruption." REPRODUCTION 147, no. 4 (April 2014): R87—R95. http://dx.doi.org/10.1530/rep-13-0486.
Full textAbstract:
Insulin-like factor 3 (INSL3) is generated and secreted by differentiated interstitial Leydig cells of the testes in both fetal and adult males of all mammalian species so far analyzed. All evidence to date suggests that it is produced constitutively, independently of acute regulation by the hypothalamo-pituitary–gonadal (HPG) axis, in amounts which reflect the numbers and differentiation status of the Leydig cells. This Leydig cell functional capacity is otherwise monitored only by androgen output, which, however, is massively confounded by acute regulation from the HPG axis and other factors leading to substantial and irregular short-term variation. Leydig cells are a primary target of endocrine-disrupting agents in the context of the testicular dysgenesis syndrome in the fetal male, as well as in the adult. In the male fetus, INSL3 is responsible for the first phase of testicular descent, and hence is directly linked to the etiology of cryptorchidism. In this study, by measuring INSL3 production, for example, during fetal life via amniotic fluid, or as secretions from fetal testis explants, or in adult peripheral blood, we and others have shown that INSL3 represents a useful quantitative and sensitive endpoint for assessing the impact of endocrine-disrupting agents and their mechanisms of action.
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Bogatcheva, Natalia V., Alberto Ferlin, Shu Feng, Anne Truong, Lisa Gianesello, Carlo Foresta, and Alexander I. Agoulnik. "T222P mutation of the insulin-like 3 hormone receptor LGR8 is associated with testicular maldescent and hinders receptor expression on the cell surface membrane." American Journal of Physiology-Endocrinology and Metabolism 292, no. 1 (January 2007): E138—E144. http://dx.doi.org/10.1152/ajpendo.00228.2006.
Full textAbstract:
Insulin-like 3 (INSL3) hormone plays a crucial role in testicular descent during embryonic development. Genetic ablation of Insl3 or its G protein-coupled receptor (GPCR) Lgr8 causes cryptorchidism in mice. Previously, we identified a nonfunctional T222P mutation of LGR8 in several human patients with testicular maldescent. Using a large population of patients and healthy controls from Italy, we have demonstrated that T222P LGR8 mutation is present only in affected patients (19 T222P/+ of 598 vs. 0/450, P < 0.0001). We have also identified a novel allele of LGR8 (R223K) found in one patient with retractile testes. Both mutations are located in the leucine-rich repeats (LRRs) of GPCR ectodomain. The expression analysis of T222P mutant receptor transfected into 293T cells revealed that the mutation severely compromised GPCR cell membrane expression. The substitution of Thr222 with the neutral Ser or Ala, or the R223K mutation, did not alter receptor cell membrane expression or ligand-induced cAMP increase. Additional mutations, affecting first leucine in a signature LxxLxLxxN/CxL stretch of LRR (L283F), or the amino acid residues, forming the disulfide bond or coordinating calcium ion in the LDLa module (C71Y and D70Y), also rendered proteins with reduced cell surface expression. The structural alterations of both LRRs and LDLa of the ligand-binding part of LGR8 cause the inability of receptor to express on the cell surface membrane and might be responsible for the abnormal testicular phenotype in patients.
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Drake, Amanda J., Sander van den Driesche, Hayley M. Scott, Gary R. Hutchison, Jonathan R. Seckl, and Richard M. Sharpe. "Glucocorticoids Amplify Dibutyl Phthalate-Induced Disruption of Testosterone Production and Male Reproductive Development." Endocrinology 150, no. 11 (October 9, 2009): 5055–64. http://dx.doi.org/10.1210/en.2009-0700.
Full textAbstract:
Common male reproductive abnormalities including cryptorchidism, hypospadias, and low sperm counts may comprise a testicular dysgenesis syndrome (TDS), resulting from fetal testis dysfunction during a critical developmental period involving reduced androgen production/action. The recent increase in TDS prevalence suggests environmental/lifestyle factors may be etiologically important. The developing fetus is exposed to multimodal challenges, and we hypothesized that exposure to a combination of factors rather than single agents may be important in the pathogenesis of TDS. We experimentally induced fetal testis dysfunction in rats via treatment of pregnant females daily from embryonic day (e) 13.5 to e21.5 with vehicle, 100 or 500 mg/kg · d dibutyl phthalate (DBP), 0.1 mg/kg · d dexamethasone (Dex), or a combination of DBP + Dex. In adulthood, penile length/normality, testis weight/descent, prostate weight, and plasma testosterone levels were measured plus anogenital distance (AGD) as a measure of androgen action within the masculinization programming window. Intratesticular testosterone and steroidogenic enzyme gene expression were measured in fetal testes at e17.5. High-dose DBP reduced fetal intratesticular testosterone and steroidogenic gene expression; induced mild hypospadias (31%) and cryptorchidism (53%); and reduced penile length, AGD, and testis and prostate weight in adulthood. Dex alone had no effect except to reduce birth weight but amplified the adverse effects of 500 mg/kg · d DBP and exacerbated the effects of 100 mg/kg · d DBP. All adverse effects were highly correlated to AGD, emphasizing the etiological importance of the masculinization programming window. These findings suggest that exposure to common environmental chemicals in combination with, for example, maternal stress, may increase the risk of common male reproductive abnormalities, with implications for human populations.
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Mendis-Handagama, S. M. L. C., H. B. S. Ariyaratne, L. Mrkonjich, and R. Ivell. "Expression of insulin-like peptide 3 in the postnatal rat Leydig cell lineage: timing and effects of triiodothyronine-treatment." Reproduction 133, no. 2 (February 2007): 479–85. http://dx.doi.org/10.1530/rep-06-0238.
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Fetal (FLC) and adult Leydig cells (ALC) secrete insulin-like peptide 3 (INSL3), which is linked to cryptorchidism in the newborn rat. Its gene regulation appears to be independent of that for most steroidogenic enzymes, and may thus be a marker for other aspects of ALC differentiation. Our study examined the following on INSL3 peptide expression in ALC lineage (i) timing, (ii) which cell stage, and (iii) effects of triiodothyronine (T3). Male Sprague–Dawley (SD) rats of postnatal days (pd) 1, 5, 7–21, 28, 40, 60, and 90 were used for the objectives (i) and (ii). For the objective (iii), control and T3-treated (daily T3 SC, 50 μg/kg bw) SD rats of pd7–16 and 21 were used. INSL3 was immunolocalized in Bouin’s-fixed testes. FLC were positive and mesenchymal and Leydig progenitor cells were negative for INSL3 at tested ages. INSL3 in ALC lineage was first detected in newly formed ALC on pd16, although they were present from pd10. The intensity of INSL3 label was greater in ALC of pd40–90. ALC were present in T3-treated testes at pd9, but INSL3 first detected in them was on pd12. While INSL3 in FLC regulates testicular descent, INSL3 in ALC still has no well-defined function. However, its pattern of expression correlates temporally with the development of steroidogenic function and spermatogenesis. Thus, the delay between ALC differentiation and INSL3 expression in them implies that INSL3 in ALC is associated with maturation. The advancement of INSL3 expression in the ALC of T3-treated rats implies that this function is established earlier with T3-treatment.
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Globa, E. V., N. B. Zelinska, V. A. Yengovatova, O. A. Horosha, N. L. Pogadayeva, and І. О. Peretyatko. "Congenital hypothalamic hypogonadism — a Kallmann syndrome in boys. Clinical cases." Clinical Endocrinology and Endocrine Surgery, no. 4 (December 16, 2021): 53–65. http://dx.doi.org/10.30978/cees-2021-4-53.
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Central hypogonadism (CH) is a rare disease that occurs with a frequency of 1 : 8000 in women and 1 : 4000 in men. In 60 % of cases of CH, it is caused by Kallmann syndrome (KS) — a disease in which hypogonadotropic hypogonadism is combined with olfactory disorders (hyposmia or anosmia).Aim — to study clinical features, principles of diagnosis of CH/KS and evaluation of the effectiveness of various treatment. Materials and methods. 4 cases with CH/KS from three families had been described. Laboratory and instrumental investigations were used to confirm the KS; genetic diagnosis was performed using targeted next-generation sequencing (tNGS hypogonadotropic panel).Results. Patients with CH/KS had a wide spectrum of genital disorders (micropenia, cryptorchidism, microorchidism), which appeared at different age. Extragenital pathology was found in three of four patients: namely disorders of kidney, eye, respiratory system, hypoparathyroidism, hypothyroidism and epilepsy. It should be noted that all patients had olfactory disorders, which appeared in two of them only during a detailed survey after receiving genetic testing. In all patients, the diagnosis of CH was confirmed by the test with triptorelin 0.1. Also, all patients who underwent densitometry were found to have significant osteoporosis. In three patients, genetic testing confirmed hemizygous pathogenic variants in ANOS1 gene, while in one patient a heterozygous variant in FGFR1 gene was confirmed. After treatment with chorionic gonadotropin (HCG), two patients responded positively, with a descent of the testicles into the scrotum and an increase of testosterone level and testicular volume. However, in the other two patients there was no positive trend in treatment with HCG, therefore, the use of recombinant human FSH (r-FSH) in the form of priming and then further — in combination with HCG may be considered. Although the presence of severe microorchidism, cryptorchidism, low levels of AMH, inhibin B, and an unsatisfactory response to the previous treatment with HCG indicates extremely unfavorable prognosis. Therefore, in order to achieve the fertility in some patients with CH/KS, the most likely attempt is the use of assisted reproductive technologies.Conclusions. The leading problem in the treatment of patients with KS is their different response to hormone therapy, including different manifestations of the disease.
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Warner, Bronwen E., Carol D. Inward, and Christine P. Burren. "Gonadotrophin abnormalities in an infant with Lowe syndrome." Endocrinology, Diabetes & Metabolism Case Reports 2017 (April 19, 2017). http://dx.doi.org/10.1530/edm-17-0042.
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Summary This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic–pituitary–gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis. There are a handful of reports of pubertal delay, infertility and cryptorchidism in Lowe syndrome. Biochemistry aged 72 h: testosterone 6.4 nmol/L, LH <0.5 IU/L and FSH <0.5 IU/L. Gonadotropin-releasing hormone stimulation test identified significantly raised baseline LH = 45.4 IU/L (contrasts with earlier undetectable LH), with a 20% increase on stimulation, while baseline FSH = 4.3 IU/L with no increase on stimulation. Day 14 HCG stimulation test produced an acceptable 50% increase in testosterone. The constellation of further abnormalities suggested Lowe syndrome: hypotonia, bilateral cataracts (surgical extraction and intraocular lens implantation) and renal tubular acidosis (microscopic haematuria, hypercalciuria, proteinuria, generalised aminoaciduria, hypophosphataemia and metabolic acidosis). DNA sequencing identified de novo hemizygous frameshift mutation OCRL c.2409_2410delCT in exon 22. Interpretation of initial and repeat GnRH and HCG testing indicates the likelihood of testicular failure. Partial testicular descent occurred but left orchidopexy was required. Improving long-term gonadal function in Lowe syndrome assumes increased importance for current cohorts as advances in renal replacement therapy have greatly improved life expectancy. Noting HPG axis abnormalities in Lowe syndrome in infancy can identify cases requiring increased surveillance of pubertal progress for earlier detection and management. Learning points: Clinical endocrine problems in Lowe syndrome has been reported, but has focused on abnormalities in adolescence and young adulthood: pubertal delay and infertility. We present an infant with isolated LH elevation at baseline and on GnRH stimulation testing who also had bilateral impalpable testes. Early testing of the HPG axis in patients with Lowe syndrome may help predict gonadal abnormalities from a younger age, which will enhance the overall case management into adolescence.
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Ugolini, Lays Wouters, Fernanda Carlini Cunha dos Santos, Gabriela Vicensi Da Costa, Henrique Ramos Oliveira, Natália Folchini, Tanise Policarpo Machado, Ricardo Zannela, and Leonardo Porto Alves. "Testicular Teratoma in a Unilateral Right-Sided Abdominal Cryptorchid Horse." Acta Scientiae Veterinariae 47 (July 19, 2019). http://dx.doi.org/10.22456/1679-9216.93609.
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Background: Cryptorchidism is characterized by the incomplete descent of one or both testicles to the scrotum, being a hereditary alteration and frequently an unilateral condition. Besides the sexual and aggressive behaviour, the retained testicle is commonly located in abdominal cavity, being considered a risk factor for neoplasm development. The most common testicular neoplasm reported in mammalian species are Sertoli cell tumors, Leydig cell tumors, seminomas and teratomas. A presumptive diagnosis of testicular tumor can be achieved by ultrasonography, although the definitive diagnosis is obtained only by histopathology. In this report, we are presenting a of testicular teratoma in an unilateral abdominal cryptorchid horse. Case: A stallion, American Quarter Horse, 3 year-old, was attended and presented right testicle retained and a left testicle in the scrotum. Transrectal palpation was used to identify a round and firm structure, presumably the right testicle, lateral to the urinary bladder and located in the right side of the abdomen. Further, a transrectal ultrasound examination showed a complex, round mass with irregular edges containing both cystic and solid structures, hypoechoic fluid-filled cavities separated by linear hyperechoic septa. After a clinical examination, the animal was diagnosed with cryptorchidism and was submitted to orchiectomy and cryptorchidectomy by inguinal approach. Surgery was performed under general anesthesia and postoperative care included cold shower, anti-inflammatory and antibiotic therapy. Testicles were surgically removed and further sent for histopathological examination. The visual appearance of the right undescended testicle showed multiple round, cystic, and solid structures on outer surface, while the left descended testicle was apparently normal. The macroscopic evaluation showed that the affected testicle consisted of a firm to soft solid mass with multiple fluid-filled cystic areas. Microscopically, the testicular architecture was replaced by cysts, fibrous tissue, adipose tissue, glandular structures, and foci of calcification. The histology revealed that the retained testicle had a testicular teratoma. Discussion: Reproductive disorders are common in horses and represent a significant part of the equine practitioner routine. Equine cryptorchidism is the most common non-lethal developmental defect of stallions; Surgery is the best treatment, since this alteration is hereditary. Teratomas have been reported more often in cryptorchid testicles, being usually just diagnosed as an incidental finding during surgical procedure. Under field conditions, usually the testicles are not sent for histopathological evaluation and this fact can contribute to underdiagnoses. Ultrasonography allows clinicians to determine testis location as well as morphological changes in the testes, as well as to elaborate a presumptive diagnose of testicular neoplasm. Histopathology is the best exam to achieve definitive diagnoses in the presence of testicular alterations. In our report, diagnosis of testicular neoplasia was not made before surgery and testicular mass was an incidental finding during the pre-surgical examination. Before testicular enlargement or presence of testicular mass, neoplasia should be included in the differential diagnosis. In conclusion, although rare, teratoma should be included in differential diagnoses of retained testicles, especially those with morphological alterations.
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Chai, Simin, Ran Tian, Juanjuan Bi, Shixia Xu, Guang Yang, and Wenhua Ren. "Rapid evolution and molecular convergence in cryptorchidism-related genes associated with inherently undescended testes in mammals." BMC Ecology and Evolution 21, no. 1 (February 10, 2021). http://dx.doi.org/10.1186/s12862-021-01753-5.
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Abstract Background The mammalian testis is an important male exocrine gland and spermatozoa-producing organ that usually lies in extra-abdominal scrotums to provide a cooler environment for spermatogenesis and sperm storage. Testicles sometimes fail to descend, leading to cryptorchidism. However, certain groups of mammals possess inherently ascrotal testes (i.e. testes that do not descend completely or at all) that have the same physiological functions as completely descended scrotal testes. Although several anatomical and hormonal factors involved in testicular descent have been studied, there is still a paucity of comprehensive research on the genetic mechanisms underlying the evolution of testicular descent in mammals and how mammals with ascrotal testes maintain their reproductive health. Results We performed integrative phenotypic and comparative genomic analyses of 380 cryptorchidism-related genes and found that the mammalian ascrotal testes trait is derived from an ancestral scrotal state. Rapidly evolving genes in ascrotal mammals were enriched in the Hedgehog pathway—which regulates Leydig cell differentiation and testosterone secretion—and muscle development. Moreover, some cryptorchidism-related genes in ascrotal mammals had undergone positive selection and contained specific mutations and indels. Genes harboring convergent/parallel amino acid substitutions between ascrotal mammals were enriched in GTPase functions. Conclusions Our results suggest that the scrotal testis is an ancestral state in mammals, and the ascrotal phenotype was derived multiple times in independent lineages. In addition, the adaptive evolution of genes involved in testicular descent and the development of the gubernaculum contributed to the evolution of ascrotal testes. Accurate DNA replication, the proper segregation of genetic material, and appropriate autophagy are the potential mechanisms for maintaining physiological normality during spermatogenesis in ascrotal mammals. Furthermore, the molecular convergence of GTPases is probably a mechanism in the ascrotal testes of different mammals. This study provides novel insights into the evolution of the testis and scrotum in mammals and contributes to a better understanding of the pathogenesis of cryptorchidism in humans.
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Otuu, O., U. U. Nnadozie, C. C. Maduba, and U. E. Eni. "Penopubic testicular ectopia with bilateral cryptorchidism presenting as obstructed inguinal Amyand’s hernia." Journal of Surgical Case Reports 2021, no. 2 (February 1, 2021). http://dx.doi.org/10.1093/jscr/rjab016.
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Abstract Testicular ectopia is an aberrant deviation of the migration of the testis from its usual path of descent into the scrotum. Of the forms of ectopic testis, the penopubic (also called pubopenile) type is one of the least common; in this case, presented as an obstructed hernia. We report a rare case of penopubic testicular ectopia with bilateral cryptorchidism in a 17-year-old boy who presented to the emergency room with right obstructed inguinal hernia. Intraoperative findings included bilateral cryptorchidism, hernia sac with right undescended testis and normal vermiform appendix, a left penopubic testis abutting the hernia sac. Both testes had separate epididymides and adequate length of vasa deferentia and were transposed into their respective hemiscrotum via an open inguinal approach. The patient had an uneventful recovery. Penopubic testicular ectopia can present as obstructed Amyand’s hernia. Early open groin exploration with orchidopexy was satisfactory.
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de Vasconcelos, Rômulo A. L., Ricardo A. A. Ximenes, Adriano A. Calado, Celina M. T. Martelli, Andreia V. Gonçalves, Elizabeth B. Brickley, Thalia V. B. de Araújo, Maria A. W. Rocha, and Demócrito de B. Miranda-Filho. "Surgical findings in cryptorchidism in children with Zika-related microcephaly: a case series." BMC Urology 20, no. 1 (November 23, 2020). http://dx.doi.org/10.1186/s12894-020-00721-3.
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Abstract Background Complications in the urinary tract related to congenital Zika syndrome have recently been reported. One complication, cryptorchidism, has been reported by the Microcephaly Epidemic Research Group/MERG, in Pernambuco/Brazil. The present article describes for the first time the surgical findings in a case series of boys with Zika-related microcephaly and cryptorchidism, who underwent surgical testicular exploration as a contribution to better understand the possible mechanisms involved in gonads formation and descent. Methods A total of 7 children (11 testicular units), aged 3 to 4 years, were submitted to inguinal or scrotal orchidopexy for the treatment of palpable cryptorchidism between August 2019 and January 2020. Characteristics of the gonads and its annexes related to appendixes, testis-epididymis dissociation, gubernacular insertion, and associated hydroceles and/or hernias were described. Measures in centimetres were taken for volume calculate. Results We found a low prevalence of testicular and epididymal appendix (66.7%), a high prevalence of testis-epididymis dissociation (55.6%), low mean testicular volume for their ages (lower for older boys) and ectopic gubernacular insertion in all cases. There was no evidence of associated hydroceles and/or hernias in any case. No surgical complication was registered or reported, and all explored gonads were properly placed in the scrotal sac. Conclusions We herein describe the surgical findings of these children's orchidopexies and discuss the possible mechanisms of viral action in embryogenesis and postnatal growth and development of the testes and annexes. These children need to be followed over time due to the higher risk of testicular atrophy and malignancy. Surgical timing seems to be relevant to avoid loss of testicular volume.
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Sinopidis, Xenophon, Eirini Kostopoulou, Andrea Paola Rojas-Gil, Antonios Panagidis, Eleni Kourea, Spyros Skiadopoulos, George Georgiou, and Bessie E. Spiliotis. "Association of antimullerian hormone with the size of the appendix testis, the androgen and estrogen receptors and their expression in the appendix testis, in congenital cryptorchidism." Journal of Pediatric Endocrinology and Metabolism, July 16, 2021. http://dx.doi.org/10.1515/jpem-2021-0240.
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Abstract Objectives Antimullerian hormone (AMH) causes regression of the mullerian ducts in the male fetus. The appendix testis (AT) is a vestigial remnant of mullerian duct origin, containing both androgen (AR) and estrogen (ER) receptors. The role of both AMH and AT in testicular descent is yet to be studied. We investigated the possible association of AMH with AT size, the AR and ER, and their expression in the AT, in congenital cryptorchidism. Methods A total of 26 patients with congenital unilateral cryptorchidism and 26 controls with orthotopic testes were investigated, and 21 ATs were identified in each group. AMH and insulin-like three hormone (INSL3) concentrations were measured with spectrophotometry. AR and ER receptor expression was assessed with immunohistochemistry using monoclonal antibodies R441 for AR and MAB463 for ER. For the estimation of receptor expression, the Allred Score method was used. Results AMH concentrations did not present significant differences between patients with congenital cryptorchidism and the controls. Also, no correlation was found between AMH, INSL3, and AT length. Allred scores did not present significant differences. However, expression percentiles and intensity for both receptors presented significant differences. Three children with cryptorchidism and the highest AMH levels also had the highest estrogen receptor scores in the AT. Conclusions No association was found between AMH and the studied major parameters. However, higher AMH concentrations, in combination with higher estrogen receptor scores in the AT, may play a role in cryptorchidism in some children. Larger population samples are needed to verify this observation.
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Aliya Ishaq, Mariya Ishaq, Muhammad Shadab Khan, Abida Parveen, Muhammad Jamshaid Hussain Khan, and Shabbir Hussain. "Anatomical location of undescended testes and comparison between their size at different anatomical locations: A cross sectional study." Journal of Case Reports and Images, May 25, 2021, 16–26. http://dx.doi.org/10.36811/jcri.2021.110021.
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Introduction: Undescended testis (UDT) or cryptorchidism is a common childhood condition in which a boy is born without having one or both testes in their scrotum. It is a very frequent clinical finding in boys, with a prevalence of about 2-4%. The inguinoscrotal phase of testicular descent normally takes place in the last trimester of pregnancy. The regulation of prenatal testicular descent in humans is not fully understood, but numerous genetic and endocrinal factors are thought to have been involved. Preterm boys have been described to have a higher rate of UDT. The classification of UDT is performed according to palpable or nonpalpable testis. If the testis is located inside the normal path of descent, the testis is called ’intra-abdominal’, for those located in the abdomen is called ’intracanalicular’, for those located between the internal and external rings or ’suprascrotal’, for those located between the entrance of the scrotum and the external ring. This study was conducted to determine the frequency of anatomical location of undescended testis in pediatric patients undergoing orchidopexy as well as to compare the mean size of undescended testis at different anatomical location in pediatric patients undergoing orchidopexy as a secondary objective. Methods: It’s a cross sectional study of 94 patients with total 110 testes as per inclusion criteria. Study was performed at pediatric surgery department of Liaquat National university hospital Karachi, Pakistan for a duration of eight months. Orchidopexy was performed under general anesthesia as a surgical day care procedure. At orchiopexy, the outcome variables i.e. location and size of the testis was noted. The size of the testis was measured in anteroposterior and mediolateral dimensions vernier caliper, graduated in mm. The size of testis was calculated by modified Lambert’s formula (0.71xlengthxwidth2). All the collected data were entered into the proforma attached at the end. Results: Mean±SD of age was 4.29±2.19 with C.I (3.38…….4.74) years. Mean±SD of size of testis was 425.68±244.43 with C.I. (375.89……..475.47) mm. In location of testis 4 (4.2%) was located at intra-abdominal, 15 (16%) at intracanalicular and 75 (79.8%) was located at distal to superficial ring. Mean size of testis in intra-abdominal location was 276.29±145.47, intra-canalicular 367.89±196.15, distal to superficial ring was 442.27±54.08 and non-significant P-value was found i.e. (p=0.264). Conclusion: No significant difference was found between mean size of testis and location of undescended testis. The most common location was distal to superficial ring. Keyword: Testes; Undescended; Anatomical Location; Orchidopexy; Anatomical Location
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Goto, Teppei, Masumi Hirabayashi, Youki Watanabe, Makoto Sanbo, Koichi Tomita, Naoko Inoue, Hiroko Tsukamura, and Yoshihisa Uenoyama. "Testosterone Supplementation Rescues Spermatogenesis and In Vitro Fertilizing Ability of Sperm in Kiss1 Knockout Mice." Endocrinology 161, no. 9 (June 8, 2020). http://dx.doi.org/10.1210/endocr/bqaa092.
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Abstract Restoration of spermatogenesis and fertility is a major issue to be solved in male mammals with hypogonadotropic hypogonadism. Kiss1 knockout (KO) male mice are postulated to be a suitable animal model to investigate if hormonal replacement rescues spermatogenesis in mammals with this severe reproductive hormone deficiency, because KO mice replicate the hypothalamic disorder causing hypogonadism. The present study investigated whether testosterone supplementation was able to restore spermatogenesis and in vitro fertilization ability in Kiss1 KO mice. To this end, spermatogenesis, in vitro fertilization ability of Kiss1 KO sperm, and preimplantation development of wild-type embryos inseminated with Kiss1 KO sperm, were examined. The newly generated Kiss1 KO male mice showed infertility with cryptorchidism. Subcutaneous testosterone supplementation for 6 weeks restored plasma and intratesticular testosterone levels, elicited testicular descent, and induced complete spermatogenesis from spermatocytes to elongated spermatids in the testis, resulting in an increase in epididymal sperm number in testosterone-supplemented Kiss1 KO male mice. Epididymal sperm derived from the testosterone-supplemented Kiss1 KO mice showed normal in vitro fertilization ability, and the fertilized eggs showed normal preimplantation development, while the males failed to impregnate females. These results suggest that the failure of spermatogenesis in Kiss1 KO mice is mainly due to a lack of testosterone production, and that Kiss1 KO sperm are capable of fertilizing eggs if the animals receive the appropriate testosterone supplementation without local kisspeptin signaling in the testis and epididymis. Thus, testosterone supplementation would restore spermatogenesis of male mammals showing hypogonadotropic hypogonadism with genetic inactivation of the KISS1/Kiss1 gene.
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Mathew, Deepa, Phyllis Witzel Speiser, Aristotle Panayiotopoulos, and Laura Pisani. "SUN-159 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency in 1 Month Old Infant." Journal of the Endocrine Society 4, Supplement_1 (April 2020). http://dx.doi.org/10.1210/jendso/bvaa046.1375.
Full textAbstract:
Abstract Background: 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare autosomal recessive disorder caused by mutations in HSD17B3 encoding the enzyme which converts androstenedione to testosterone. It is characterized in 46, XY males by incomplete virilization, including micropenis and hypospadias. Clinical Case: We report a 1 month old infant who presented with ambiguous genitalia. Prenatal non-invasive screening showed a Y chromosome, however, fetal ultrasound revealed female genitalia. The infant was born with micropenis (~1.4 cm in length) and proximal hypospadius, with enlarged labioscrotal folds and palpable gonads bilaterally. The urethral meatus had been relocated surgically to the glans. There was an apparent vaginal orifice with a normally positioned anus. Initial testing revealed a normal serum 17-OHP (90 ng/dl, n<200 ng/dl) and normal electrolytes. Abdominal US showed normal kidneys. Pelvic US demonstrated no Mullerian structures; gonads thought to be testes were identified in the labioscrotal folds. At 3 months of age, the infant underwent a 3 day HCG stimulation testing with a borderline testosterone response to 132 ng/dl, androstenedione 78 ng/dl and DHT 25 ng/dl. T/A ratio was unremarkable at 1.7 (n>0.8). Thus, hormonal testing was unsupportive of a testicular steroidogenic enzyme deficiency or androgen insensitivity syndrome. Karyotype was confirmed as 46, XY with microarray evidence of multiple regions of homozygosity. Genotyping with a 46, XY DSD panel (GeneDx) revealed a homozygous pathogenic variant c.608 C>T (p.A203V) in exon 9 of the HSD17B3 gene, consistent with a diagnosis of autosomal recessive 17-beta hydroxysteroid dehydrogenase 3 deficiency. Parents are of Arabic descent and are consanguineous. An older brother was also born with ambiguous genital and was later found to be homozygous for the same mutation. This mutation has been identified in the homozygous state in several unrelated affected patients. Previously published functional studies demonstrated loss of enzymatic activity with this missense mutation (1). Male gender was assigned at birth, and parents wish to continue male sex of rearing. Conclusion: Molecular genetic analysis utilizing a commercially available candidate gene panel for 46, XY disorders of sex development diagnosed 17 beta-HSD3 deficiency in this case where hormonal testing was not informative. Early and correct diagnosis is key in planning medical treatment to facilitate pubertal development. References: (1) Geissler et al., 1994 Nature Genetics 7(1): 34-9.