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Journal articles on the topic 'Testicules – Malformations'

Author: Grafiati

Published: 4 June 2021

Last updated: 4 February 2022

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1

Poupalou, Anna, George Spyridis, Marina Vakaki, Panagiota Giamarelou, George Petousis, and Pantelis Nikolaidis. "A Case of Cystic Dysplasia of the Rete Testis in a 17-Months-Old Boy." Case Reports in Medicine 2011 (2011): 1–4. http://dx.doi.org/10.1155/2011/389857.

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Cystic dysplasia of the testis (CDT) is a benign, congenital malformation of the testis and a rare cause of painless scrotal swelling in children, mimicking testicular cancer. It is commonly unilateral, often associated with ipsilateral wolffian duct and ureteral abnormalities. Cystic dysplasia of the rete testis (CDT) represents a diagnostic challenge made easier if age, precise localisation, typical ultrasonographic features, the presence or absence of associated genitourinary malformations, as well as tumor markers are considered. The definite treatment of such a benign lesion is testis-spa

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2

Fernandez-Pineda, Israel, and Lalit Parida. "Testicular haemangiomas and vascular malformations." Lancet Oncology 11, no. 9 (2010): 814. http://dx.doi.org/10.1016/s1470-2045(10)70122-4.

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3

De Paula, Georgette Beatriz, Beatriz Amstalden Barros, Stela Carpini, et al. "408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing." International Journal of Endocrinology 2016 (2016): 1–9. http://dx.doi.org/10.1155/2016/4963574.

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Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia.Methods. Retrospective study during 23 years at outpatient clinic of a referral center.Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase defic

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4

Trabert, Britton, Daniela Zugna, Lorenzo Richiardi, Katherine A. McGlynn, and Olof Akre. "Congenital malformations and testicular germ cell tumors." International Journal of Cancer 133, no. 8 (2013): 1900–1904. http://dx.doi.org/10.1002/ijc.28207.

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5

Kadouri, Youssef, Damien Carnicelli, Hachem El Sayegh, Lounis Benslimane, and Yassine Nouini. "Pathogenesis, Diagnosis, and Management of Splenogonadal Fusion: A Literature Review." Case Reports in Urology 2020 (October 8, 2020): 1–7. http://dx.doi.org/10.1155/2020/8876219.

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Introduction. Splenogonadal fusion is a rare congenital anomaly, defined by the presence of ectopic splenic tissue caused by an abnormal connection between the spleen and the gonad or mesonephrotic derivatives during the embryonic period. Materials and Methods. By reporting an observational case and performing a review of the literature according to the CARE guidelines (using the PubMed database and guidelines from urology, general surgery, and pediatric learned societies), we present the embryological genesis of the splenogonadal fusion, the associated anatomical anomalies, and the diagnostic

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6

Richie, Jerome P. "Re: Congenital Malformations and Testicular Germ Cell Tumors." Journal of Urology 192, no. 5 (2014): 1423. http://dx.doi.org/10.1016/j.juro.2014.08.017.

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7

Gulsen, Fatih, Ismail Mihmanli, Fatih Kantarci, Abdulkadir Eren, and Suleyman Onder Ataus. "Testicular Arteriovenous Malformation: Gray-Scale and Color Doppler Ultrasonography Features." Case Reports in Medicine 2011 (2011): 1–4. http://dx.doi.org/10.1155/2011/876206.

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Intratesticular arteriovenous malformations (AVMs) are extremely rare benign incidental lesions of the testis. Ultrasonography (US) generally reveals a hypoechoic solid mass within the testicular parenchyma. We describe a patient with intratesticular AVM which was found incidentally during workup for infertility. The gray-scale and Doppler US appearance of an intratesticular AVM and the differential diagnosis have been presented. Based on the gray-scale, US appearance differentiation from malignant testicular tumors is difficult. Doppler US examination aids in the diagnosis by demonstrating th

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8

Tzvetkova, P. "Congenital anomalies of the mesonephronic duct and fertility." Acta chirurgica Iugoslavica 54, no. 2 (2007): 63–67. http://dx.doi.org/10.2298/aci0702063t.

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Agenesia of deferential duct and the others congenital malformations of mesonephronical duct are often encountering condition in andrological practice. This study presents the possibilities of reproductive medicine to restore the male fertility and concentrates on biological and clinical aspects of malformations of mesonephronic duct like factors for excretory male infertility. The investigations including 104 patients (mean age 30.25+1.91 years old) with congenital anomalies of mesonephronical duct with: Agenesia of mesonephronical derivates - case with unilateral agenesia of the deferent duc

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9

Nistal, Manuel, José I. Rodríguez, Eugenia García-Fernández, Mariana M. Cajaiba, and Miguel Reyes-Múgica. "Fetal Gonadoblastoid Testicular Dysplasia: A Focal Failure of Testicular Development." Pediatric and Developmental Pathology 10, no. 4 (2007): 274–81. http://dx.doi.org/10.2350/06-09-0158.1.

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Fetal gonadoblastoid testicular dysplasia (FGTD) is an extremely rare lesion, which, in its original description, appeared in association with hydrops fetalis and other malformations. Its phenotype strongly resembles gonadoblastoma, although in contrast with that rare tumor, FGTD is not associated with the intersexual states or gonadal dysgenesis that accompany such neoplasm. Two reports described an association of FGTD and a morphologically similar lesion with Walker-Warburg syndrome. However, we have not confirmed such an observation, although a nonspecific muscle disorder was found in one o

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10

De Carli, Claudio, Luis Guerra, and Michael Leonard. "Bilobed testicle in children: diagnosis and management." Canadian Urological Association Journal 3, no. 6 (2013): 87. http://dx.doi.org/10.5489/cuaj.1188.

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Bilobed testicle is an extremely rare testicular malformation inchildren. It may be presumed that this condition could be an incompleteexpression of polyorchidism; however, the etiology of bothentities remains unknown. In this report, a 3-year-old boy presentedwith a right bilobed testicle mimicking a testicular tumour. Sincethere are insufficient data in the pediatric literature presenting theideal management of bilobed testicles, we believe it is importantto report this case to provide more information about this condition.Although rare, bilobed testis should be considered in the differentia

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11

Imperial, Sandy L., and Jagmohan S. Sidhu. "Nonseminomatous Germ Cell Tumor Arising in Splenogonadal Fusion." Archives of Pathology & Laboratory Medicine 126, no. 10 (2002): 1222–25. http://dx.doi.org/10.5858/2002-126-1222-ngctai.

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Abstract Splenogonadal fusion is a rare congenital malformation in which the spleen is abnormally connected to the gonads or to the mesonephric derivatives. A few more than 150 cases have been described in the world literature. We report an additional case of splenogonadal fusion. A nonseminomatous germ cell tumor was found in the testicle involved in this splenogonadal fusion. To our knowledge, this is the third reported case of a testicular neoplasm associated with splenogonadal fusion and the first reported case of intra-abdominal nonseminomatous germ cell testicular tumor arising in this r

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12

M�ller, Henrik, Anne Prener, and Niels Erik Skakkebxk. "Testicular cancer, cryptorchidism, inguinal hernia, testicular atrophy, and genital malformations: case-control studies in Denmark." Cancer Causes and Control 7, no. 2 (1996): 264–74. http://dx.doi.org/10.1007/bf00051302.

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13

Bouzouita, Abderrazak, Walid Kerkeni, Hassine Abouda, et al. "Seminal vesicle agenesis: An uncommon cause of azoospermia." Canadian Urological Association Journal 8, no. 3-4 (2014): 266. http://dx.doi.org/10.5489/cuaj.1663.

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Seminal vesicle malformations are a rare cause of obstructive azoospermia, often associated with other internal genitalia and upper urinary tract birth defects. We report 5 new cases of seminal vesicle agenesis in men presenting with hypospermia and azoospermia.Imaging showed seminal vesicle unilateral agenesis in all patients.The remaining seminal vesicle was hypoplastic in 3 cases, dilatedin 1 case and with abnormally thick content in another case. Vasdeferens agenesis was observed unilaterally in 2 patients and bilaterally in 2 other patients. No renal malformations were detected. Genetic s

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14

Nishi, Mirian Yumie, Thais Cotrim Martins, Elaine Maria Frade Costa, Berenice Bilharinho Mendonca, Amilcar Martins Giron, and Sorahia Domenice. "Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding." Arquivos Brasileiros de Endocrinologia & Metabologia 57, no. 2 (2013): 148–52. http://dx.doi.org/10.1590/s0004-27302013000200009.

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Chromosome aberrations or genetic syndromes associated with cloacal-bladder exstrophy complex have rarely been reported. The aim of this report is to describe a 14 year-old female Brazilian patient with a complex urogenital malformation, short stature, lack of secondary sexual characteristics and Y chromosome aberration. A girl with cloacal bladder exstrophy complex was referred for evaluation of short stature and absence of secondary sexual characteristics. Pre-pubertal levels of gonadotropins and sex steroids were observed at the beginning of monitoring, but follow-up showed a progressive in

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15

Trovalusci, Emanuele, Marco Rossato, Piergiorgio Gamba, and Paola Midrio. "Testicular function and sexuality in adult patients with anorectal malformation." Journal of Pediatric Surgery 55, no. 9 (2020): 1839–45. http://dx.doi.org/10.1016/j.jpedsurg.2019.12.028.

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16

Fowler, PA, T. Murray, DR Abramovich, N. Haites, and RG Lea. "Environmental chemical effects on testicular function." Reproductive Medicine Review 10, no. 2 (2002): 77–100. http://dx.doi.org/10.1017/s0962279902000212.

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There have been a number of reviews on this topic over the past decade, starting with Carlsen et al. and including Irvine et al. and Murray et al., concerning declining male fertility. The most exhaustive has perhaps been that of Toppari et al. The main findings of these reviews are: (1) that in some countries of the world sperm production has halved in the last 60 years, (2) rates of testicular cancer have doubled, (3) rates of malformation of the male reproductive tract, such as hypospadias, have doubled, (4) rates of testicular maldescent have risen sharply and (5) these effects are largely

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17

Morris, Michael W., William Cauthen, James A. Bofill, Christopher J. Blewett, and Kenneth W. Liechty. "Retroperitoneal lymphatic malformation and transverse testicular ectopia: A unique clinical presentation." Journal of Pediatric Surgery 48, no. 4 (2013): e17-e20. http://dx.doi.org/10.1016/j.jpedsurg.2013.01.032.

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18

Rittler, Mônica, and Eduardo E. Castilla. "Endocrine disruptors and congenital anomalies." Cadernos de Saúde Pública 18, no. 2 (2002): 421–28. http://dx.doi.org/10.1590/s0102-311x2002000200006.

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The specialized literature was reviewed concerning the suspected increasing secular trends in the frequency of female births, male genital congenital anomalies, abnormal sperm counts, and testicular cancer. Although no risk factors could be identified yet, the observed sex ratio decline during the last decades has been considered to be an effect of certain pollutants on normal hormone activity, and human reproductive development. Reported increasing trends in the frequencies of hypospadias and cryptorchidism are very difficult to be interpreted due to the large variability in the registered fr

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19

Hung, Noelyn A., Meredith M. Silver, David Chitayat, et al. "Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome." Pediatric and Developmental Pathology 1, no. 5 (1998): 393–404. http://dx.doi.org/10.1007/s100249900054.

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Two male fetuses (18 and 22 weeks gestation) and a 3-month-old male infant (full sibling of the younger fetus) who were diagnosed with Walker-Warburg syndrome (WWS) on the basis of neuropathologic autopsy findings in brain, eyes, and muscle also had micro-orchia and, microscopically, diffuse gonadoblastoid dysplasia in the testes. Both fetuses also had a miniature left ureter and cystic dysplastic left kidney. Testes from control fetuses of 17–24 weeks gestation with normal karyotype and no central nervous system abnormalities (group A, n = 50), a variety of central nervous system abnormalitie

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20

Fénichel, Patrick, and Nicolas Chevalier. "Is Testicular Germ Cell Cancer Estrogen Dependent? The Role of Endocrine Disrupting Chemicals." Endocrinology 160, no. 12 (2019): 2981–89. http://dx.doi.org/10.1210/en.2019-00486.

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Abstract Testicular germ cell cancer (TGCC) is the most frequent cancer of the young male, with an increasing incidence worldwide. The pathogenesis and reasons for this increase remain unknown. However, epidemiological and experimental data have suggested that, similar to genital malformations and sperm impairment, it could result from the interaction of genetic and environmental factors including fetal exposure to endocrine-disrupting chemicals (EDCs) with estrogenic effects. In this review, we analyze the expression of classic and nonclassic estrogen receptors by TGCC cells, the way they may

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21

Masciovecchio, Stefano, Pietro Saldutto, Giuseppe Paradiso Galatioto, and Carlo Vicentini. "Medullary Sponge Kidney and Testicular Dysgenesis Syndrome: A Rare Association." Case Reports in Urology 2014 (2014): 1–3. http://dx.doi.org/10.1155/2014/841781.

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The medullary sponge kidney is also known as Lenarduzzi’s kidney or Cacchi and Ricci’s disease from the first Italian authors who described its main features. A review of the scientific literature underlines particular rarity of the association of MSK with developmental abnormalities of the lower urinary tract and genital tract such as hypospadias and bilateral cryptorchidism. The work presented is the only one in the scientific literature that shows the association between the medullary sponge kidney and the testicular dysgenesis syndrome. A question still remains unanswered: are the MSK and

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22

Sanches, Eliane S. A. M., Felipe Tsuzuki, Fábio A. Joinhas, Caio C. N. Martins, Glaura S. A. Fernandes, and Maria J. S. Salles. "Bupropion promotes alterations in the spermatogenesis of mice and congenital malformations in the offspring." Reproduction, Fertility and Development 30, no. 12 (2018): 1751. http://dx.doi.org/10.1071/rd18007.

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Bupropion hydrochloride (BUP) has been associated with male sexual dysfunction. The aim of this study was to evaluate the effects of BUP on the reproductive function of male mice and to evaluate offspring development. The mice were distributed into BUP group (40 mg kg−1) and control group (saline). On Day 35 of treatment the males were placed to mate with females and then killed on Day 46 for evaluation of reproductive function. On Day 18 of pregnancy, pregnant females were killed for evaluation of congenital malformations in the offspring. The BUP group showed a decrease in the Johnsen score

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23

Bairati, A., E. Della Morte, A. Giarola, M. Pasini, M. E. Perotti, and M. Sari. "Testicular Biopsy of Azoospermic Men with Vas Deferens Malformation Using two Different Techniques." Archives of Andrology 17, no. 1 (1986): 67–78. http://dx.doi.org/10.3109/01485018608986958.

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24

Cezarino, Bruno Nicolino, Roberto Iglesias Lopes, Marcos Gianetti Machado, et al. "Micropenis." Revista de Medicina 97, no. 3 (2018): 308–13. http://dx.doi.org/10.11606/issn.1679-9836.v97i3p308-313.

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Micropenis refers to a normally structured penis, which is abnormally small, with a stretched length of less than 2.5 standard deviations (SD) below the mean of age or stage of sexual development. Patients with true micropenis usually have a 46,XY karyotype, associated to normally located male gonads, without any sign of other penile malformations. Penile length is measured from the point where the penis meets the pubic bone to the distal tip of the glans on maximal stretch, compressing any fat over suprapubic area. Differential diagnosis include buried penis (inability to adequately expose th

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Bajkin, Ivana, Artur Bjelica, Tijana Icin, Vesna Dobric, Branka Kovacev-Zavisic, and Milica Medic-Stojanoska. "Effects of phthalic acid esters on fetal health." Medical review 67, no. 5-6 (2014): 172–75. http://dx.doi.org/10.2298/mpns1406172b.

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Introduction. Phthalates are synthetic industrial compounds capable of disrupting endocrine system. Effects of phthalates depend on dosage, duration of action and stage of development of the individual, thus making the fetus, newborn, and children at puberty the most vulnerable groups. Metabolism of Phthalates: Metabolism of these compounds consists of at least two steps: hydrolysis and conjugation. They are mainly excreted in urine, with a low percent being excreted through feces. Exposure to Phthalates. Exposure to the effects of phthalates begins at the intrauterine stage since the phthalat

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Zanon, A. "Cryptorchidism: Prevalence at Birth and Testicular Post-Natal Descent." Urologia Journal 63, no. 2 (1996): 203–9. http://dx.doi.org/10.1177/039156039606300208.

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This works gives the results of an epidemiological survey on the frequency of cryptorchidism carried out from 1988–1994 in the Hospital of Cittadella (Padua) on 3185 newborn. These babies were examined again by the same operator at 3-6-12 months. Standard criteria were used in defining cryptorchidism. Fifty-seven newborn (1.79%) were cryptorchid. The rate was much higher at birth for hypodystrophic and pre-term infants. The frequency descended to 1.17% and 1.15% respectively at 6 and 12 months, when the difference between the frequency of cryptorchidism in pre-term and underweight infants was

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Słowikowska-Hilczer, Jolanta. "Xenobiotics with estrogen or antiandrogen action — disruptors of the male reproductive system." Open Medicine 1, no. 3 (2006): 205–27. http://dx.doi.org/10.2478/s11536-006-0027-6.

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AbstractThe environmental and life-style changes associated with developing industry and agriculture, especially the exposure to endocrine disrupting chemicals (xenobiotics), are considered as causes of the increasing incidence of male reproductive system disorders. Most of the xenobiotics, which harmfully influence the male reproductive system, reveal estrogen-like (xenoestrogens) or anti-androgenic activity. Recent data have revealed physiological roles of estrogens in the male, however, there are evidences that estrogen-like substances may lead to many undesirable symptoms in the male i.e.

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28

Main, Katharina M., Jorma Toppari, and Niels E. Skakkebæk. "Gonadal development and reproductive hormones in infant boys." European Journal of Endocrinology 155, suppl_1 (2006): S51—S57. http://dx.doi.org/10.1530/eje.1.02237.

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Background: The intrauterine milieu plays a crucial role for cardiovascular and metabolic diseases in adulthood, but little is known about its impact on gonadal development and reproduction. Impaired testis development in fetal life can lead to cryptorchidism, hypospadias, impaired semen quality, and testicular cancer, disorders that may present symptoms of a testicular dysgenesis syndrome. The prevalence of these disorders appears to increase in many areas, probably due to environmental factors acting in utero. Denmark has a significantly higher incidence of testicular cancer and lower sperm

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29

Naughton, C. K. "Malformation rate and sex ratio in 412 children conceived with epididymal or testicular sperm." Yearbook of Urology 2008 (January 2008): 176–77. http://dx.doi.org/10.1016/s0084-4071(08)79064-x.

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30

Boström, Kerstin, and Arne Brun. "TESTICULAR CHANGES IN ASSOCIATION WITH MALFORMATION OF TFIE CENTRAL NERVOUS SYSTEM AND MENTAL RETARDATION." Acta Pathologica Microbiologica Scandinavica Section A Pathology 79A, no. 3 (2009): 249–56. http://dx.doi.org/10.1111/j.1699-0463.1971.tb01816.x.

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31

Fedder, Jens, A. Gabrielsen, P. Humaidan, K. Erb, E. Ernst, and A. Loft. "Malformation rate and sex ratio in 412 children conceived with epididymal or testicular sperm." Human Reproduction 22, no. 4 (2007): 1080–85. http://dx.doi.org/10.1093/humrep/del488.

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32

Raitio, Arimatias, Johanna Syvänen, Asta Tauriainen, et al. "Congenital abdominal wall defects and cryptorchidism: a population-based study." Pediatric Surgery International 37, no. 7 (2021): 837–41. http://dx.doi.org/10.1007/s00383-021-04863-9.

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Abstract Purpose Several studies have reported high prevalence of undescended testis (UDT) among boys with congenital abdominal wall defects (AWD). Due to rarity of AWDs, however, true prevalence of testicular maldescent among these boys is not known. We conducted a national register study to determine the prevalence of UDT among Finnish males with an AWD. Methods All male infants with either gastroschisis or omphalocele born between Jan 1, 1998 and Dec 31, 2015 were identified in the Register of Congenital Malformations. The data on all performed operations were acquired from the Care Registe

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Kristensen, David Møbjerg, Christèle Desdoits-Lethimonier, Abigail L. Mackey, et al. "Ibuprofen alters human testicular physiology to produce a state of compensated hypogonadism." Proceedings of the National Academy of Sciences 115, no. 4 (2018): E715—E724. http://dx.doi.org/10.1073/pnas.1715035115.

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Concern has been raised over increased male reproductive disorders in the Western world, and the disruption of male endocrinology has been suggested to play a central role. Several studies have shown that mild analgesics exposure during fetal life is associated with antiandrogenic effects and congenital malformations, but the effects on the adult man remain largely unknown. Through a clinical trial with young men exposed to ibuprofen, we show that the analgesic resulted in the clinical condition named “compensated hypogonadism," a condition prevalent among elderly men and associated with repro

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Sukura, Antti, Raili Mäkipää, Matti Vierula, Heriberto Rodriguez-Martinez, Pernilla Sundbäck, and Magnus Andersson. "Hereditary Sterilizing Short-Tail Sperm Defect in Finnish Yorkshire Boars." Journal of Veterinary Diagnostic Investigation 14, no. 5 (2002): 382–88. http://dx.doi.org/10.1177/104063870201400504.

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A new infertility syndrome has recently been described in Finnish Yorkshire boars. Typical for the syndrome is total akinesia and severe tail malformation of the spermatozoa. Morphometric analysis was performed on semen smears from 20 affected and 18 control boars and on testicular tissue sections from 5 affected and 4 control boars. Semen morphometry revealed that, in affected boars, the length of the sperm tails was only 33% of that of the controls (15.4 μm vs. 47.0 μm, P < 0.0001). Typical for the spermatozoa of affected boars was also an abundant frequency of proximal cytoplasmic drople

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Pinheiro, L. E. L., A. B. Mikich, G. H. Bechara, I. L. Almeida, and P. K. Basrur. "Isochromosome Y in an infertile heifer." Genome 33, no. 5 (1990): 690–95. http://dx.doi.org/10.1139/g90-104.

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The chromosome makeup of a 3-year-old crossbred heifer was examined in an attempt to explore the cytogenetic causes of her infertility. The heifer proved to be a mosaic carrying predominantly XY cells and with approximately 30% of cells lacking a normal Y. The minor population included cells carrying a dicentric isochromosome Y and a small proportion of XO cells. Histological features of the gonads and reproductive system suggest that the presence of cells resulting from isochromosome formation and the consequent loss of the Y chromosome segment required for testicular induction may have been

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Minisy, Fatma M., Hossam H. Shawki, Abdelfatteh El Omri, et al. "Pomegranate Seeds Extract Possesses a Protective Effect against Tramadol-Induced Testicular Toxicity in Experimental Rats." BioMed Research International 2020 (March 9, 2020): 1–12. http://dx.doi.org/10.1155/2020/2732958.

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Tramadol is a centrally acting opioid analgesic that is extensively used. The chronic exposure to tramadol induces oxidative stress and toxicity especially for patients consuming it several times a day. Previously, we and others reported that tramadol induces testicular damage in rats. This study was conducted to investigate the possible protective effect of pomegranate seed extract (PgSE) against tramadol-induced testicular damage in adult and adolescent rats. Male rats were orally treated with tramadol or in a combination with PgSE for three weeks. Testes were then dissected and analyzed. Hi

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Foresta, Carlo, Daniela Zuccarello, Andrea Garolla, and Alberto Ferlin. "Role of Hormones, Genes, and Environment in Human Cryptorchidism." Endocrine Reviews 29, no. 5 (2008): 560–80. http://dx.doi.org/10.1210/er.2007-0042.

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Abstract Cryptorchidism is the most frequent congenital birth defect in male children (2–4% in full-term male births), and it has the potential to impact the health of the human male. In fact, although it is often considered a mild malformation, it represents the best-characterized risk factor for reduced fertility and testicular cancer. Furthermore, some reports have highlighted a significant increase in the prevalence of cryptorchidism over the last few decades. Etiology of cryptorchidism remains for the most part unknown, and cryptorchidism itself might be considered a complex disease. Majo

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Han, Haoyuan, Hong Dong, Qiuming Chen, et al. "Transcriptomic Analysis of Testicular Gene Expression in Normal and Cryptorchid Horses." Animals 10, no. 1 (2020): 102. http://dx.doi.org/10.3390/ani10010102.

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Testes produce sperm, and investigations into gene expression in the testes will enhance the understanding of the roles of testicular genes in male reproduction. Cryptorchidism, the failure of one or both testes to descend into the scrotal sac, is a common congenital malformation in horses. The major clinical consequence of this abnormality is impaired fertility. The aim of this study was to analyze the expression patterns of testicular genes and to identify the differentially expressed genes (DEGs) in testes between cryptorchid and normal horses. In this study, the gene expression patterns in

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Kia, Farnaaz, Kyriakie Sarafoglou, Ashajyothi Mooganayakanakote Siddappa, and Kari D. Roberts. "Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factor." BMJ Case Reports 12, no. 7 (2019): e227986. http://dx.doi.org/10.1136/bcr-2018-227986.

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A term neonate was admitted to the Neonatal Intensive Care Unit for respiratory distress, hypotonia and atypical genitalia. Significant findings included a small phallic structure, labial folds, no palpable gonads and two perineal openings. Pelvic ultrasound showed uterine didelphys and a gonad in the right inguinal canal. The right gonad was removed during diagnostic laparoscopy with microscopic evaluation showing infantile testicular tissue and fluorescence in-situ hybridisation showed only XY signal suggesting that the removed gonad was a male-developed testis. Infant was 46,XY, SRY probe p

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Bendon, Robert, and Alexander Asamoah. "Perinatal Autopsy Findings in Three Cases of Jugular Lymphatic Obstruction Sequence and Cardiac Polyvalvular Dysplasia." Pediatric and Developmental Pathology 11, no. 2 (2008): 133–37. http://dx.doi.org/10.2350/07-02-0230.1.

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Three infants with a prenatal diagnosis of Noonan's syndrome suffered fetal hydrops and immediate neonatal death. The infants all had the external appearance of jugular lymphatic obstruction sequence with wide-spaced nipples, redundant posterior nuchal skin, and edema of the dorsa of the feet and hands. All 3 demonstrated thick, redundant leaflets of all 4 cardiac valves, and 2 had a membranous ventricular septal defect. One female infant had a mutation of the PTPN11 gene. Two males had no common mutation of PTPN11. The males demonstrated other abnormalities in common, including small penis, t

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Yu, H., K. Wen, X. Zhou, et al. "Role of unfolded protein response in genital malformation/damage of male mice induced by flutamide." Human & Experimental Toxicology 39, no. 12 (2020): 1690–99. http://dx.doi.org/10.1177/0960327120937049.

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The unfolded protein response (UPR) is one of a switch of autophagy and apoptosis, and the endoplasmic reticulum stress (ERS) which inducing UPR plays a role in the malformations caused by some genetic and environmental factors. Exposure to flutamide during pregnancy will also cause abnormalities in some male offspring reproductive organs such as cryptorchidism. In this study, after administered the pregnant mouse orally at a dose of 300 mg/kg body weight every day during gestational day (GD)12 to GD18, flutamide can not only caused hypospadias in the male mouse offspring but also damaged the

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Dumeige, Laurence, Livie Chatelais, Claire Bouvattier, et al. "Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?" European Journal of Endocrinology 179, no. 3 (2018): 181–90. http://dx.doi.org/10.1530/eje-18-0309.

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Objective Few studies of patients with a 45,X/46,XY mosaicism have considered those with normal male phenotype. The purpose of this study was to evaluate the clinical outcome of 45,X/46,XY boys born with normal or minor abnormalities of external genitalia, notably in terms of growth and pubertal development. Methods Retrospective longitudinal study of 40 patients followed between 1982 and 2017 in France. Results Twenty patients had a prenatal diagnosis, whereas 20 patients had a postnatal diagnosis, mainly for short stature. Most patients had stunted growth, with abnormal growth spurt during p

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Tournaye, H., J. Liu, Z. Nagy, et al. "Intracytoplasmic sperm injection (ICSI): the Brussels experience." Reproduction, Fertility and Development 7, no. 2 (1995): 269. http://dx.doi.org/10.1071/rd9950269.

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The present report covers the results of a 26-month period in which 1275 consecutive treatment cycles by intracytoplasmic sperm injection (ICSI) were performed in 919 couples. These couples were afflicted with male factor infertility and had had at least one previous failed conventional in vitro fertilization (IVF) treatment cycle. In other couples, the husband had semen parameters incompatible with conventional IVF or suffered from excretory azoospermia which required microsurgical epididymal sperm aspiration or testicular sperm retrieval. Overall, the 2 pronuclear (PN) fertilization rate was

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Komina, Selim, Merima Herac, Leonhard Müllauer, Peter R. Mazal, and Martin Susani. "FISH Technique as Additional Diagnostic Tool in Differentiating Testicular Pulmonary Metastasis from Pulmonary Congenital Cystic Adenomatoid Malformation." Applied Immunohistochemistry & Molecular Morphology 24, no. 3 (2016): e16-e17. http://dx.doi.org/10.1097/pai.0000000000000131.

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Lin, Chun-Ming, Hock-Liew Eng, Victor F. Pang, and Fun-In Wang. "CASE REPORT: UNILATERAL ECTOPIC TESTIS IN THE TUNICA ALBUGINEA CONCURS WITH EPIDIDYMAL HYPERPLASIA IN THE ATROPHIC TESTIS IN A DOG." Taiwan Veterinary Journal 43, no. 04 (2017): 307–11. http://dx.doi.org/10.1142/s1682648517720027.

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A 10-year-old male Fox Terrier presented with two descended testes of different sizes. The left testis was normal, while the right one was atrophic. The tunica albuginea (TA) of the right testis was distributed with brown spots of less than 1[Formula: see text]mm in diameter, and was microscopically determined to be ectopic testis which consists of Leydig cell adenoma, primitive seminiferous tubules (STs), intratubular seminoma, and reduplication of arterioles. At the junction of the TA with the spermatic cord, units of testis primordia were present. The STs of the remaining atrophic (not ecto

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Chen, Yongmei, Huizhen Wang, Nan Qi, et al. "Functions of TAM RTKs in regulating spermatogenesis and male fertility in mice." REPRODUCTION 138, no. 4 (2009): 655–66. http://dx.doi.org/10.1530/rep-09-0101.

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Mice lacking TYRO3, AXL and MER (TAM) receptor tyrosine kinases (RTKs) are male sterile. The mechanism of TAM RTKs in regulating male fertility remains unknown. In this study, we analyzed in more detail the testicular phenotype of TAM triple mutant (TAM−/−) mice with an effort to understand the mechanism. We demonstrate that the three TAM RTKs cooperatively regulate male fertility, and MER appears to be more important than AXL and TYRO3. TAM−/− testes showed a progressive loss of germ cells from elongated spermatids to spermatogonia. Young adult TAM−/− mice exhibited oligo-astheno-teratozoospe

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Fedder, J., A. Loft, E. T. Parner, S. Rasmussen, and A. Pinborg. "Neonatal outcome and congenital malformations in children born after ICSI with testicular or epididymal sperm: a controlled national cohort study." Human Reproduction 28, no. 1 (2012): 230–40. http://dx.doi.org/10.1093/humrep/des377.

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Ehman, Dylan, Veronica Mugarab Samedi, Kaarthigeyan Kalaniti, and Sibasis Daspal. "Neonatal Escherichia coli infection in twins: clinical spectrum and management dilemma." BMJ Case Reports 14, no. 1 (2021): e238470. http://dx.doi.org/10.1136/bcr-2020-238470.

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The clinical manifestation of Escherichia coli could vary from asymptomatic bacteraemia to systemic bloodstream infection and meningitis. We describe an unusual course of E. coli infection in twins, emphasising commencement of appropriate antimicrobial therapy. A set of male dichorionic diamniotic twins were delivered at 34 weeks of gestation by caesarian section. Pregnancy was complicated by diabetes, pre-eclampsia and cholestasis. Antenatal ultrasounds noted a congenital pulmonary airway malformation in twin A. Following delivery, twin A developed respiratory distress, but twin B was asympto

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Lee, Seung Min, Hong Dae Kim, Young-Ki Lee, and Jung Woo Noh. "A case of ruptured renal cortical arteriovenous malformation of the right testicular vein in hemorrhagic fever with renal syndrome." Korean Journal of Internal Medicine 28, no. 3 (2013): 365. http://dx.doi.org/10.3904/kjim.2013.28.3.365.

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Stigliani, Sara, Claudia Massarotti, Caterina De Leo, et al. "Fifteen Year Regional Center Experience in Sperm Banking for Cancer Patients: Use and Reproductive Outcomes in Survivors." Cancers 13, no. 1 (2021): 116. http://dx.doi.org/10.3390/cancers13010116.

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Cancer treatments frequently impair the reproductive ability of patients by damaging spermatogenesis. International guidelines recommend semen cryopreservation to preserve the fertility of oncological adult males and pubertal boys. However, due to the low usage rate of banked samples, not a lot of data on assisted reproductive treatments (ART) success rates in this population and follow-up data for children born are available in the literature. The aims of this study were to report our 15 years of experience, the clinical outcomes of ART as well as neonatal characteristics of babies born. We r

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