Results 131 to 140 of about 2,312 (175)

Gonadoblastomas in 5 Patients with 46,XY Gonadal Dysgenesis

Experimental and Clinical Endocrinology & Diabetes, 2005
We describe five patients with 46,XY gonadal dysgenesis who developed gonadoblastomas, dysgerminomas, a mature teratoma, and a testicular intraepithelial neoplasia. The age of the patients was between 12.2 and 18.5 years. The external genitalia were normal female in two cases, in three they were intersexual.
W, Hoepffner, L-C, Horn, E, Simon, G, Sauerbrei, H, Schröder, B, Thamm-Mücke, J, Bennek, W, Kiess   +7 more
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Asymmetric gonadal dysgenesis in a 46,XY individual

Adolescent and Pediatric Gynecology, 1988
Abstract The gonadal phenotype of ipsilateral intra-abdominal testis and contralateral rudimentary streak gonad is invariably associated with masculinizing signs, short stature, and a mosaic 45,X/46,XY karyotype. A 16-year-old female with asymmetric gonadal dysgenesis without clinical or biochemical evidence of androgen overproduction, and a 46,XY ...
Dorothy J. Roach, Sandra P.T. Tho, Leo Plouffe, Paul G. McDonough   +3 more
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Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis

Clinical Genetics, 2003
46,XY gonadal dysgenesis was transmitted as an autosomal‐dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal males.
Jawaheer, D, Juo, S‐hh, Le Caignec, C, David, A, Petit, Christine, Gregersen, P, Dowbak, S, Damle, A, Mcelreavey, Kenneth, Ostrer, H   +9 more
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Management of Males with 45,X/46,XY Gonadal Dysgenesis

Hormone Research in Paediatrics, 1999
Males with the 45,X/46,XY karyotype and malformations of the external genitalia carry an increased risk of developing germ cell neoplasia of the gonads. We have studied gonadal tissue from 10 individuals, 0.3–17 years of age, with a male phenotype and either hypospadias and/or cryptorchidism. Four patients, 0.3–15 years of age, had carcinoma in situ, 1
J, Müller, E M, Ritzén, S A, Ivarsson, E, Rajpert-De Meyts, E, Norjavaara, N E, Skakkebaek   +5 more
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Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis

Sexual Development, 2023
<b><i>Introduction:</i></b> 46,XY gonadal dysgenesis is a condition that is characterised by undeveloped testes in individuals with a male karyotype. Mutations in many genes that underlie this condition have been identified; however, there are still a considerable number of patients with an unknown genetic background.
Sirokha, Dmytro, Rayevsky, Alexey, Gorodna, Olexandra, Kalynovskyi, Vitalii, Zelinska, Nataliya, Samson, Oksana, Kwiatkowska, Krystyna, Nef, Serge, Jaruzelska, Jadwiga, Kusz-Zamelczyk, Kamila, Livshits, Ludmila   +10 more
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Gonadal dysgenesis (46,XY) and gonocytoma.

The Journal of reproductive medicine, 1981
A case of 46,XY gonadal dysgenesis with a type III Teter's gonocytoma occurred in the left ovary of a 22-year-old woman. Hormonal, genetic and laparoscopic studies were performed before the diagnosis of gonadal dysgenesis was made. Gonadal neoplasm was found after bilateral gonadectomy.
J A, Benito, J A, Portuondo, F J, Rodriguez-Escudero, J, Garriga, M A, Aniel-Quiroga   +4 more
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Genetic Mechanisms Underlying 46,XY DSD with Gonadal Dysgenesis

2011
Genetic changes in key sex-determining genes lead to 46,XY disorders of sex development (DSD) in humans. Loss-of-function mutation in the sex-determining region on Y (SRY), steroidogenic factor 1 (SF1), and SRY-Box gene 9 (SOX9) genes causes varying phenotypic changes ranging from complete syndromic gonadal dysgenesis to isolated hypospadias. Similarly,
Louisa, Ludbrook, Vincent R, Harley
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46, XY Pure Gonadal Dysgenesis and Tumoral Risk

Journal of Pediatric Urology, 2009
Purpose Gonadal dysgenesis corresponds to an impaired development of the gonad. One of its major characteristic is its high propensity to malignancy. This study presented the cases of 46, XY pure gonadal dysgenesis (GD) managed in our center over an 18 years period.
Carmen Capito, Alexis Arnaud, Sabine Baron, Albert David, Nadège Coradini, Marc David Leclair, Yves Heloury   +6 more
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Indications for familial screening and gonadectomy in patients with 46,XY gonadal dysgenesis

International Journal of Gynecology & Obstetrics, 2006
The genetic aberration causing 46,XY gonadal dysgenesis, or Swyer syndrome, results in the complete sex reversal of the affected individual— who has normal female external genitalia and Mullerian structures. A 15-year-old girl (patient 1) presented with primary amenorrhea and no breast development but Tanner stage 3 pubic hair development.
P, Dimitri, M, Cohen, N, Wright
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Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis

Fertility and Sterility, 2015
To assess genetic mutations and associated somatic anomalies in a series of patients with 46,XY gonadal dysgenesis (GD).Single center retrospective study.University pediatric hospital.Fourteen patients with 46,XY GD.None.Genotype-phenotype relationship.The presenting symptom was disorders of sex development (6 patients), primary amenorrhea (2 patients),
Claire, Bastian, Jean-Baptiste, Muller, Stephen, Lortat-Jacob, Claire, Nihoul-Fékété, Joelle, Bignon-Topalovic, Ken, McElreavey, Anu, Bashamboo, Raja, Brauner   +7 more
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