Results 101 to 110 of about 43,260 (208)

Pure Gonadal Dysgenesis [PDF]

Proceedings of the Royal Society of Medicine, 1970
openaire   +2 more sources

Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development

Frontiers in Pediatrics
ObjectiveA firm diagnosis revealing the etiology of disorders/differences of sex development (DSD) is most helpful in guiding clinical management. The aim of this study is to investigate molecular genetic diagnoses and surgical treatment in a cohort of ...
Yuenshan Sammi Wong, Yuenshan Sammi Wong, Ho Ming Luk, Ho Chung Yau, Lap Ming Wong, Sarah Wing Yiu Poon, Joanna Yuet Ling Tung, Yuk Him Tam, Yuk Him Tam   +8 more
doaj   +1 more source

Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases

Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome.
O. G. Andze, P. Y. Mure, M. A. Sosso, S. Dahoun, A. S. Nwaha Makon, G. Fossi, F. F. Mouafo Tambo, C. Kamadjou   +7 more
core   +1 more source

Gonadal Dysgenesis: Report of a Middle-Aged Patient with Un-united Epiphyses [PDF]

, 2017
A 44-year-old patient with gonadal dysgenesis (Turner's syndrome) is described, in whom the presence of ununited iliac crest epiphyses was found. The extreme delay of epiphyseal maturation encountered in this case is thought to be the longest yet ...
Potasnick, A
core  

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study

, 2015
The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15-20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence.
Maciel-Guerra, AT, Soardi, FC, de Mello, MP, Guerra, G, Coeli, FB   +4 more
core   +1 more source

Laparoscopy versus ultrasonography for the evaluation of Müllerian duct remnants in male patients with disorder of sex differentiation

Egyptian Pediatric Association Gazette
Background The diagnosis of male differences of sex development is a challenging multidisciplinary team task, that requires external genital evaluation, karyotyping, hormonal profiling, radiological work up and frequently diagnostic laparoscopy and ...
Mohamed Sayed Abd El-Monsif, Noha Arafa, Mahmoud Marei Marei, Gamal Eltagy, Ahmed M. K. Wishahy   +4 more
doaj   +1 more source

NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review. [PDF]

Medicine (Baltimore), 2023
Wei X, Li S, He Y.
europepmc   +1 more source

A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY. [PDF]

Clin Pediatr Endocrinol, 2023
Narita C, Takubo N, Sammori M, Matsumura Y, Shimura K, Ozaki R, Haruna H, Narumi S, Ishii T, Hasegawa T, Shimizu T.   +10 more
europepmc   +1 more source

Síndrome de turner estudo da correlação clínica e citogenética em oito pacientes. [PDF]

, 1996
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Tocoginecologia, Curso de Medicina, Florianópolis ...
Fonseca, Ivan Carlos da
core  

Gonadal Dysgenesis: Fertility Options

Annals of the New York Academy of Sciences, 1997
Loutradis, D, Drakakis, P
openaire   +3 more sources