Log in

Relevant bibliographies by topics / Dysgenesis / Journal articles

To see the other types of publications on this topic, follow the link: Dysgenesis.

Journal articles on the topic 'Dysgenesis'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Dysgenesis.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

Tak, Apoorva, Pratibha Singh, Garima Yadav, and Meenakshi Rao. "46XX pure gonadal dysgenesis with dysgerminoma along with leydig cells: a unique presentation." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 9, no. 6 (2020): 2619. http://dx.doi.org/10.18203/2320-1770.ijrcog20202361.

Full text

Abstract:

Authors report a unique case of 46XX gonadal dysgenesis, with dysgerminoma in one ovary and other streak ovary with hilar nests of leydig cells. It is exceptionally rare to find dysgerminoma in a dysgenetic gonad with no Y chromosome and so is the presence of leydig cells in the contralateral streak ovary in a patient with 46XX pure gonadal dysgenesis.

APA, Harvard, Vancouver, ISO, and other styles

2

Morozov, D. A., N. Yu Raygorodskaya, N. V. Bolotova, E. S. Pimenova, G. N. Maslyakova, and E. N. Tsmokalyuk. "The disturbed gonadal differentiation: dysgenesis and ovotesticular disorder of sex formation." Problems of Endocrinology 61, no. 1 (2015): 31–35. http://dx.doi.org/10.14341/probl201561131-35.

Full text

Abstract:

The objective of the present study was differential diagnostics between ovotestis and gonadal dysgenesis, the choice of the gender and the surgical strategy for the treatment of abnormal sexual glands. Diagnostics of the disturbances of gonadal differentiation (DGD) requires morphological verification. The ovotesticular gonad is characterized by the presence of a mature ovarian tissue and a dysgenetic testicular component. The authors describe the surgical separation of the ovotestis with preservation of the segments represented by the mature ovarian tissue. The presence of immature ovarian el

APA, Harvard, Vancouver, ISO, and other styles

3

Borer, Joseph G., Victor W. Nitti, and Kenneth I. Glassberg. "Mixed Gonadal Dysgenesis and Dysgenetic Male Pseudohermaphroditism." Journal of Urology 153, no. 4 (1995): 1267–73. http://dx.doi.org/10.1016/s0022-5347(01)67584-0.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Trainavičius, Ignas, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, and Gilvydas Verkauskas. "Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature." Acta medica Lituanica 29, no. 2 (2022): 5. http://dx.doi.org/10.15388/amed.2022.29.2.5.

Full text

Abstract:

Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder of genital development and a higher risk of germ cell neoplasia, management of these patients is complex and requires multidisciplinary approach.Case: We present a 45,X/46,XY mixed gonadal dysgenesis patient diagnosed with gonadoblastoma in both gonads after bilateral gonadectomy at 1 year of age.Conclusions: Because of high risk for malignant

APA, Harvard, Vancouver, ISO, and other styles

5

Bergeron, Mélanie Beaulieu, Nicole Lemieux, and Pierre Brochu. "Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis." Pediatric and Developmental Pathology 14, no. 6 (2011): 445–59. http://dx.doi.org/10.2350/11-01-0960-oa.1.

Full text

Abstract:

Patients with XY gonadal dysgenesis are at increased risk of developing gonadal tumors. The etiology of several cases of XY gonadal dysgenesis remains unknown, but X/XY gonadal mosaicism has been hypothesized to play a role. At the histologic level, the presence of persistent primitive sex cords containing immature germ cells in dysgenetic gonads (an entity called undifferentiated gonadal tissue, or UGT) was recently described, and these immature germ cells are thought to be at risk of neoplastic transformation. To further investigate both these aspects, we retrospectively studied the gonads f

APA, Harvard, Vancouver, ISO, and other styles

6

Belmont, Judson R., Dennis Heffner, Kenneth M. Grundfast, and Vincent J. Hyams. "Laryngeal Dysgenesis." Annals of Otology, Rhinology & Laryngology 94, no. 6 (1985): 602–6. http://dx.doi.org/10.1177/000348948509400616.

Full text

Abstract:

A case of a previously undescribed anomaly of the larynx is presented and offers insight and support of current concepts of fetal laryngeal development. The patient possessed unilateral absence of true and false vocal cords, laryngeal ventricle, and saccule. Current concepts of embryological development would place the development of this anomaly and most of the patient's other multiple anomalies in the period of the 6th to 9th weeks of fetal life. This report lends substantiation to the stages of laryngeal development by demonstrating an aberration in the normal sequential development. Additi

APA, Harvard, Vancouver, ISO, and other styles

7

Baramki, Theodore A. "Gonadal Dysgenesis." Postgraduate Obstetrics & Gynecology 16, no. 17 (1996): 1. http://dx.doi.org/10.1097/00256406-199616170-00001.

Full text

APA, Harvard, Vancouver, ISO, and other styles

8

Schaefer, G. Bradley, R. D. Sheth, and John B. Bodensteiner. "Cerebral Dysgenesis." Neurologic Clinics 12, no. 4 (1994): 773–88. http://dx.doi.org/10.1016/s0733-8619(18)30076-8.

Full text

APA, Harvard, Vancouver, ISO, and other styles

9

Becker, L. E. "Synaptic Dysgenesis." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 18, no. 2 (1991): 170–80. http://dx.doi.org/10.1017/s0317167100031644.

Full text

Abstract:

ABSTRACT:Synapse formation is a complex, incompletely understood process that has received only limited investigation in man despite the importance of synaptic dysfunction in common disorders such as epilepsy and mental retardation. This review explores synaptic differentiation, focussing on the morphologic maturation of synapses. Since differentiation depends on many antecedent developmental events, synaptogenesis can be affected by several factors: errors in neuronal proliferation, migration, and differentiation. The challenge to the neurobiologist is to detect and evaluate the minor alterat

APA, Harvard, Vancouver, ISO, and other styles

10

Myers, G. J. "Cerebral Dysgenesis." Archives of Neurology 51, no. 7 (1994): 642. http://dx.doi.org/10.1001/archneur.1994.00540190016004.

Full text

APA, Harvard, Vancouver, ISO, and other styles

11

Guran, Tulay, Gozde Yesil, Serap Turan, et al. "PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans." European Journal of Endocrinology 180, no. 5 (2019): 291–309. http://dx.doi.org/10.1530/eje-19-0067.

Full text

Abstract:

Context Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B″gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of most mammalian cell types. PPP2R3C gene is most abundantly expressed in testis in humans, while its function was hitherto unknown. Patients and methods Four

APA, Harvard, Vancouver, ISO, and other styles

12

Barbaro, Michela, Jackie Cook, Kristina Lagerstedt-Robinson, and Anna Wedell. "Multigeneration Inheritance through Fertile XX Carriers of anNR0B1(DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis." International Journal of Endocrinology 2012 (2012): 1–7. http://dx.doi.org/10.1155/2012/504904.

Full text

Abstract:

A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains theMAGEBgenes and theNR0B1gene; this is the candidate for gonadal dysgenesis if overexpressed. Most patients present gonadal dysgenesis within a more complex phenotype. However, few independent cases have recently been described presenting with isolated XY gonadal dysgenesis caused by relatively smallNR0B1locus duplications. We have identified anotherNR0B1duplication in two sisters with isolated XY gonadal dysgenesis with an X-linked inheritance pattern. We perfo

APA, Harvard, Vancouver, ISO, and other styles

13

Rohatgi, M., D. K. Gupta, P. S. N. Menon, I. C. Verma, and Meera Mathur. "Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism—A critical analysis." Indian Journal of Pediatrics 59, no. 4 (1992): 487–500. http://dx.doi.org/10.1007/bf02751566.

Full text

APA, Harvard, Vancouver, ISO, and other styles

14

Ságodi, László, Janka Jakab, Ákos Kiss, et al. "Dysgenetic male pseudohermaphroditism." Orvosi Hetilap 153, no. 8 (2012): 303–7. http://dx.doi.org/10.1556/oh.2012.29303.

Full text

Abstract:

The authors report a case of a dysgenetic male pseudohermaphroditism with a 45,X/46,XY karyotype in a mosaic form, which was diagnosed in an infant. The one-week-old infant was evaluated because of proximal hypospadias and retention of the right testis. The results of hormonal tests were the followings: serum FSH 5.2 mU/ml; LH: 2.0 mU/ml; testosterone: 144.3 ng/dl; androstendione: 0.42 µg/l; 17-hydroxyprogesterone: 1.12 ng/ml. Chromosomal analysis revealed 45,X/46,XY karyotype. Fluorescent in vitro hybridization showed that 51% of the lymphocytes had the Y chromosome and the SRY gene. Analysis

APA, Harvard, Vancouver, ISO, and other styles

15

Palma, Icela, Nayely Garibay, Rocio Pena-Yolanda та ін. "Utility of OCT3/4, TSPY andβ-Catenin as Biological Markers for Gonadoblastoma Formation and Malignant Germ Cell Tumor Development in Dysgenetic Gonads". Disease Markers 34, № 6 (2013): 419–24. http://dx.doi.org/10.1155/2013/951751.

Full text

Abstract:

BACKGROUND: Gonadoblastoma (GB) is regarded as an in situ form of germ cell tumor in dysgenetic gonads, and 30% of patients with GB develop a dysgerminoma/seminoma tumor.OBJECTIVE: Determine whether OCT3/4 andβ-catenin are expressed in dysgenetic gonads before GB development and whether TSPY participates in the OCT3/4-β-catenin pathways in the malignant invasive behavior.METHODS: dysgenetic gonads of Disorders of sex differentiation (DSD) patients with mixed gonadal dysgenesis were analyzed by immunohistochemistry and immunofluorescence for comparison with GB and dysgerminoma/seminoma.RESULTS:

APA, Harvard, Vancouver, ISO, and other styles

16

Kannu, Peter, and Salim Aftimos. "FGFR3 Mutations and Medial Temporal Lobe Dysgenesis Lobe Dysgenesis." Journal of Child Neurology 22, no. 2 (2007): 211–13. http://dx.doi.org/10.1177/0883073807300292.

Full text

APA, Harvard, Vancouver, ISO, and other styles

17

Stephen, Mary, and Jayasri Periyandavan. "Understanding corneal dysgenesis: A brief review." Tropical Ophthalmology 1, no. 1 (2024): 17–20. http://dx.doi.org/10.4103/toph.toph_1_24.

Full text

Abstract:

Abstract Corneal dysgenesis encompasses a spectrum of congenital disorders affecting the development and structure of the cornea, leading to a range of visual impairments. This review provides a thorough examination of current research in the understanding of corneal dysgenesis, shedding light on its genetic basis, molecular mechanisms, and clinical manifestations. Additionally, the review discusses the impact of corneal dysgenesis on patient outcomes and quality of life, emphasizing the need for personalized approaches in diagnosis and management. By synthesizing recent findings, this study a

APA, Harvard, Vancouver, ISO, and other styles

18

Simmons, Gail M. "Sterility-mutability correlation: On the correlation between sterility and mutability during P-M hybrid dysgenesis in Drosophila melanogaster." Genetical Research 50, no. 1 (1987): 73–76. http://dx.doi.org/10.1017/s0016672300023363.

Full text

Abstract:

SummaryTwelve isogenic X chromosome lines from a single natural population of Drosophila melanogaster were tested for their potential to induce gonadal dysgenesis and singed-weak mutability in P-M hybrid dysgenesis. The correlation between sterility and mutability was significantly positive for Cross A, confirming the results reported by Engels (1984) and Kocur, Drier & Simmons (1986). In Cross A* cytotype tests, however, two of the lines gave strikingly different results when measured by the gonadal dysgenesis test as compared to the singed-weak test. Positive correlations between traits

APA, Harvard, Vancouver, ISO, and other styles

19

Mahomed, N., and J. Naidoo. "Spinal segmental dysgenesis." South African Journal of Radiology 13, no. 2 (2009): 29. http://dx.doi.org/10.4102/sajr.v13i2.542.

Full text

Abstract:

Spinal segmental dysgenesis is a rare congenital spinal abnormality , seen in neonates and infants in which a segment of the spine and spinal cord fails to develop normally . The condition is segmental with normal vertebrae above and below the malformation. This condition is commonly associated with various abnormalities that affect the heart, genitourinary, gastrointestinal tract and skeletal system. We report two cases of spinal segmental dysgenesis and the associated abnormalities.

APA, Harvard, Vancouver, ISO, and other styles

20

Andronikou, S. "Spinal segmental dysgenesis." South African Journal of Radiology 13, no. 3 (2009): 75. http://dx.doi.org/10.4102/sajr.v13i3.502.

Full text

APA, Harvard, Vancouver, ISO, and other styles

21

Knafl, Emily, Neil U. Lall, Miles Love, Cuong Bui, and Andrew J. Steven. "Segmental Spinal Dysgenesis." Ochsner Journal 20, no. 3 (2020): 244–47. http://dx.doi.org/10.31486/toj.19.0094.

Full text

APA, Harvard, Vancouver, ISO, and other styles

22

Sheth, F. J., A. S. Multani, J. J. Sheth, U. Radhakrishna, V. C. Shah, and N. J. Chinoy. "Incomplete Gonadal Dysgenesis." Urologia Internationalis 56, no. 1 (1996): 57–60. http://dx.doi.org/10.1159/000282812.

Full text

APA, Harvard, Vancouver, ISO, and other styles

23

Scott, R. M., S. M. Wolpert, L. E. Bartoshesky, S. Zimbler, and L. Karlin. "Segmental spinal dysgenesis." Neurosurgery 22, no. 4 (1988): 739???44. http://dx.doi.org/10.1097/00006123-198804000-00021.

Full text

APA, Harvard, Vancouver, ISO, and other styles

24

Ali, Mohammad Javed, and Milind N. Naik. "Canalicular Wall Dysgenesis." Ophthalmic Plastic and Reconstructive Surgery 29, no. 6 (2013): 464–68. http://dx.doi.org/10.1097/iop.0b013e3182a22eee.

Full text

APA, Harvard, Vancouver, ISO, and other styles

25

Luisiri, A., L. Salinas-Madrigal, A. Noguchi, E. R. Graviss, and M. J. Silberstein. "Renal tubular dysgenesis." American Journal of Roentgenology 157, no. 2 (1991): 383–84. http://dx.doi.org/10.2214/ajr.157.2.1853827.

Full text

APA, Harvard, Vancouver, ISO, and other styles

26

Méndez, Juan Pablo, Alfredo Ulloa-Aguirre, Susana Kofman-Alfaro, et al. "Mixed Gonadal Dysgenesis." Obstetrical & Gynecological Survey 48, no. 11 (1993): 756–58. http://dx.doi.org/10.1097/00006254-199311000-00021.

Full text

APA, Harvard, Vancouver, ISO, and other styles

27

Stahl, Erin D. "Anterior Segment Dysgenesis." International Ophthalmology Clinics 54, no. 3 (2014): 95–104. http://dx.doi.org/10.1097/iio.0000000000000031.

Full text

APA, Harvard, Vancouver, ISO, and other styles

28

Skakkebaek, Niels E. "Testicular Dysgenesis Syndrome." Hormone Research in Paediatrics 60, no. 3 (2003): 49. http://dx.doi.org/10.1159/000074499.

Full text

APA, Harvard, Vancouver, ISO, and other styles

29

Boon, Wong Hock, and Chua Teck Seng. "Mixed Gonadal Dysgenesis." Journal of The Asian federation of Obstetrics and Gynaecology 1, no. 1 (2010): 14–22. http://dx.doi.org/10.1111/j.1447-0756.1970.tb00128.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

30

Yuen, Sonia J. Ahn, Christine Oley, and Timothy J. Sullivan. "Lacrimal outflow dysgenesis." Ophthalmology 111, no. 9 (2004): 1782–90. http://dx.doi.org/10.1016/j.ophtha.2004.02.011.

Full text

APA, Harvard, Vancouver, ISO, and other styles

31

Bent, John P., Jose Manaligod, and Richard J. H. Smith. "Unilateral Laryngeal Dysgenesis." Otolaryngology–Head and Neck Surgery 119, no. 6 (1998): 712. http://dx.doi.org/10.1016/s0194-5998(98)70044-0.

Full text

APA, Harvard, Vancouver, ISO, and other styles

32

Gubler, Marie-Claire. "Renal tubular dysgenesis." Pediatric Nephrology 29, no. 1 (2013): 51–59. http://dx.doi.org/10.1007/s00467-013-2480-1.

Full text

APA, Harvard, Vancouver, ISO, and other styles

33

Bargaje, Archana, John F. Yerger, Adib Khouzami, and Carolyn Jones. "Cloacal dysgenesis sequence." Annals of Diagnostic Pathology 12, no. 1 (2008): 62–66. http://dx.doi.org/10.1016/j.anndiagpath.2006.08.003.

Full text

APA, Harvard, Vancouver, ISO, and other styles

34

Smith, Arabella. "Recessive gonadal dysgenesis." Clinical Genetics 23, no. 1 (2008): 80. http://dx.doi.org/10.1111/j.1399-0004.1983.tb00442.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

35

Scott, R. Michael, Samuel M. Wolpert, Louis E. Bartoshesky, Seymour Zimbler, and Lawrence Karlin. "Segmental Spinal Dysgenesis." Neurosurgery 22, no. 4 (1988): 739–44. http://dx.doi.org/10.1227/00006123-198804000-00021.

Full text

Abstract:

Abstract Segmental spinal dysgenesis is characterized by focal agenesis or dysgenesis of the lumbar or thoracolumbar spine, with focal abnormality of the underlying spinal cord and nerve roots. Children are symptomatic at birth with lower limb deformities and neurological deficits that may be segmental. Myelography and computed tomography disclose hypoplastic or absent vertebrae and atrophic or absent neural elements adjacent to the bony deformity; the spinal column distal to the abnormality may be partially bifid, but is otherwise normal. Spinal ultrasonography was a helpful diagnostic adjunc

APA, Harvard, Vancouver, ISO, and other styles

36

Nielsen, J., and U. Friedrich. "Pure gonadal dysgenesis." Clinical Genetics 3, no. 1 (2008): 52–58. http://dx.doi.org/10.1111/j.1399-0004.1972.tb01725.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

37

Duncan, Peter A., Lawrence R. Shapiro, and Robert M. Klein. "Sacrococcygeal dysgenesis association." American Journal of Medical Genetics 41, no. 2 (1991): 153–61. http://dx.doi.org/10.1002/ajmg.1320410203.

Full text

APA, Harvard, Vancouver, ISO, and other styles

38

Akl, Kamal, and Bahram Azadeh. "Renal tubular dysgenesis." American Journal of Medical Genetics 50, no. 1 (1994): 96–97. http://dx.doi.org/10.1002/ajmg.1320500122.

Full text

APA, Harvard, Vancouver, ISO, and other styles

39

Gică, Nicolae, Livia Apostol, Iulia Huluță, Corina Gică, Nicoleta Gana, and Ana-Maria Vayna. "Cloacal Dysgenesis Sequence." Diagnostics 13, no. 23 (2023): 3529. http://dx.doi.org/10.3390/diagnostics13233529.

Full text

Abstract:

This article presents a rare case of cloacal dysgenesis sequence (CDS) detected at 23 weeks of gestation in a 36-year-old woman’s first ongoing pregnancy. The fetal ultrasound demonstrated anhydramnios, megacystis, the “keyhole sign” and empty bilateral renal fossae, findings consistent with the fetal obstructive uropathy (FOU). A subsequent postmortem carried out confirmed a diagnosis of a cloacal dysgenesis sequence, characterized by the absence of anal, genital and urinary openings with intact perineum covered by smooth skin and a phallus-like structure.

APA, Harvard, Vancouver, ISO, and other styles

40

Aliyev, Nadir. "Case about Swyer syndrome (complete, or “pure” gonadal dysgenesis)." Journal of Clinical Research and Reports 5, no. 5 (2020): 01–02. http://dx.doi.org/10.31579/2690-1919/128.

Full text

Abstract:

46XY - Swyer syndrome (complete, or “pure” gonadal dysgenesis) can be briefly described as a female phenotype in the male genotype. The disease is named for the British endocrinologist Gerald Swyer, who described it in 1955. The full form of dysgenesis is nonsyndromic (not accompanied by extragenital malformations), excludes the duality of sexual development (the presence of male primary sexual characteristics along with female ones), psychological development occurs according to the female type. Congenital pathology occurs in one case in 180,000 individuals with a male karyotype and is record

APA, Harvard, Vancouver, ISO, and other styles

41

Alaya, Zeineb. "Case about Swyer syndrome (complete, or “pure” gonadal dysgenesis)." Journal of Clinical Research and Reports 5, no. 5 (2020): 01–02. http://dx.doi.org/10.31579/2690-1919/0128.

Full text

Abstract:

46XY - Swyer syndrome (complete, or “pure” gonadal dysgenesis) can be briefly described as a female phenotype in the male genotype. The disease is named for the British endocrinologist Gerald Swyer, who described it in 1955. The full form of dysgenesis is nonsyndromic (not accompanied by extragenital malformations), excludes the duality of sexual development (the presence of male primary sexual characteristics along with female ones), psychological development occurs according to the female type. Congenital pathology occurs in one case in 180,000 individuals with a male karyotype and is record

APA, Harvard, Vancouver, ISO, and other styles

42

Simmons, Gail M. "GONADAL DYSGENESIS DETERMINANTS IN A NATURAL POPULATION OF DROSOPHILA MELANOGASTER." Genetics 114, no. 3 (1986): 897–918. http://dx.doi.org/10.1093/genetics/114.3.897.

Full text

Abstract:

ABSTRACT Three populations of Drosophila melanogaster from northern California were surveyed for the ability to produce and resist gonadal dysgenesis in the P-M system of hybrid dysgenesis. Males from all three populations produced low to moderate levels of gonadal dysgenesis in crosses to Oregon-R M females. Most females had the P cytotype, but the M cytotype occurred occasionally. The three populations could not be statistically differentiated from one another, but were easily distinguished from populations from Australia and Wisconsin on the basis of gonadal dysgenesis potential. The Califo

APA, Harvard, Vancouver, ISO, and other styles

43

Amin, Sapna Vinit, and Aswathy Kumaran. "Dysgerminoma presenting at fifty, consequence to undiagnosed Swyer syndrome." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 10, no. 8 (2021): 3249. http://dx.doi.org/10.18203/2320-1770.ijrcog20212993.

Full text

Abstract:

Swyer syndrome or XY complete gonadal dysgenesis (CGD) is a rare disorder of sex development (DSD) characterized by presence of dysgenetic gonads in a phenotypically female patient with a male karyotype. Usually Swyer syndrome is diagnosed following appropriate evaluation for amenorrhea in adolescence and prophylactic gonadectomy is done as these patients have high risk of developing malignancy in their dysgenetic gonads. Here we presented patient who presented later in life with ovarian malignancy which turned out to be a consequence of undiagnosed Swyer syndrome. Her case exemplifies that fa

APA, Harvard, Vancouver, ISO, and other styles

44

Saha, Joysree, Kohinoor Begum, Kamil Ara Khanom, Indrajit Prasad, and Sumaya Akter. "Adolescent Girls with Pure Gonadal Dysgenesis: A Rare Disease." Journal of Bangladesh College of Physicians and Surgeons 36, no. 4 (2018): 170–74. http://dx.doi.org/10.3329/jbcps.v36i4.38187.

Full text

Abstract:

Gonadal dysgenesis is a rare cause of primary amenorrhoea ,which is a relatively common problem among teenage girls.Primary amenorrhoea occurs in patient with gonadal dysgenesis because of absence or limited ovarian function due to inappropriate development.Streak gonads are unable to produce estrogens and/or androgens,resulting in minimal to no development of secondary sexual characteristics.Adrenal androgens may induce production of pubic hair,but patient will have minimal breast development.These patients may have a family history of infertility, short stature,sensorineural deafness,ataxia,

APA, Harvard, Vancouver, ISO, and other styles

45

VIEIRA, JORGE, CRISTINA P. VIEIRA, DANIEL L. HARTL, and ELENA R. LOZOVSKAYA. "Factors contributing to the hybrid dysgenesis syndrome in Drosophila virilis." Genetical Research 71, no. 2 (1998): 109–17. http://dx.doi.org/10.1017/s001667239800322x.

Full text

Abstract:

A hybrid dysgenesis syndrome in Drosophila virilis is associated with the mobilization of at least four unrelated transposable elements designated Helena, Paris, Penelope and Ulysses. We carried out 42 crosses between eight strains differing in transposable element copy number in order to assess their contributions to hybrid dysgenesis. Linear regression and stepwise regression analysis was performed to estimate the correlation between the difference in euchromatic transposable element number between the parental flies of different strains involved in the crosses and the percentage, in the pro

APA, Harvard, Vancouver, ISO, and other styles

46

Kühnen, Peter, Serap Turan, Sebastian Fröhler, et al. "Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis." Journal of Clinical Endocrinology & Metabolism 99, no. 1 (2014): E169—E176. http://dx.doi.org/10.1210/jc.2013-2619.

Full text

Abstract:

Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to thyroid dysgenesis. However, a genetic cause could so far only be identified in less than 10% of patients with a thyroid dysgenesis. Objectives: Exome sequencing was used for the first time to find additional genetic defects in thyroid dysgenesis. Patients and Methods: In a consanguineous family with thyroid dysgenesis, exome sequencing was applied, and findings were further validated by Sanger sequencing in a cohort

APA, Harvard, Vancouver, ISO, and other styles

47

Santos-Neto, Octavio O., Marina H. Mariano, Antonia P. Marques-de-Faria, et al. "Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature." Sexual Development 14, no. 1-6 (2020): 3–11. http://dx.doi.org/10.1159/000513415.

Full text

Abstract:

In this study, we present 3 cases of Down syndrome (DS) associated with disorders/differences of sex development (DSD) and review the literature on this topic. Case 1: 1-year-old child with male genitalia and DS phenotype, 47,XX,+21 karyotype and testicular DSD. Case 2: 11-month-old child with male genitalia and few DS dysmorphisms, 45,X/47,XY,+21 karyotype, and mixed gonadal dysgenesis. Case 3: 4-month-old child with female genitalia and DS phenotype, 47,XY,+21 karyotype and XY complete gonadal dysgenesis. In the literature, among 188 patients, 107 (57%) had Klinefelter syndrome and 61 (33%)

APA, Harvard, Vancouver, ISO, and other styles

48

Pimentel, Clebson Pantoja, Erik Artur Cortinhas-Alves, Edivaldo Herculano Correa de Oliveira, and Luiz Carlos Santana-da-Silva. "Does the Polymorphism in the Length of the Polyalanine Tract ofFOXE1Gene Influence the Risk of Thyroid Dysgenesis Occurrence?" Journal of Thyroid Research 2017 (2017): 1–6. http://dx.doi.org/10.1155/2017/2793205.

Full text

Abstract:

Background.Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) ofFOXE1gene may act as a susceptibility factor for thyroid dysgenesis. The main purpose of this study was to investigate the influence of polyA ofFOXE1gene on the risk of thyroid dysgenesis.Method.A case-control study was conducted in a sample of 90 Brazilian patients with thyroid dysgenesis and 131 controls without family history of thyroid disease. Genomic DNA was isolated from peripheral blood samples and the genotype of each individual was determined by automated sequencing.Results.More

APA, Harvard, Vancouver, ISO, and other styles

49

McElwain, M. Catharine. "THE ABSENCE OF SOMATIC EFFECTS OF P-M HYBRID DYSGENESIS IN DROSOPHILA MELANOGASTER." Genetics 113, no. 4 (1986): 897–918. http://dx.doi.org/10.1093/genetics/113.4.897.

Full text

Abstract:

ABSTRACT The wings and abdomens of dysgenic and nondysgenic control flies were scored for the presence of clones of cells mutant for first and third chromosome markers. These exceptional clones can arise from mitotic recombination, de novo mutation or deletion, and P-M hybrid dysgenesis has been shown to increase the frequency of parallel processes occurring in germ-line cells. Particular attention was given to careful genetic and molecular characterization of all stocks and to providing adequate and appropriate controls so that even very small increases in somatic clone frequency due to P-M h

APA, Harvard, Vancouver, ISO, and other styles

50

McCluskey, Sara E., and J. Hubert Lacey. "Anorexia Nervosa in a Patient with XY Gonadal Dysgenesis." British Journal of Psychiatry 160, no. 1 (1992): 114–16. http://dx.doi.org/10.1192/bjp.160.1.114.

Full text

Abstract:

This is the first report of a case of anorexia nervosa in a woman with XY gonadal dysgenesis. Anorexia nervosa is a potential complication of gonadal dysgenesis, stemming not only from the disorder itself but from its investigation and treatment.

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!