Results 161 to 170 of about 110,162 (292)

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya. [PDF]

Clin Case Rep
Omoaghe C.
europepmc   +1 more source

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report. [PDF]

Front Endocrinol (Lausanne), 2022
Baz-Redón N, Soler-Colomer L, Fernández-Cancio M, Benito-Sanz S, Garrido M, Moliné T, Clemente M, Camats-Tarruella N, Yeste D.   +8 more
europepmc   +1 more source

Complete gonadal dysgenesis 46,XY (Swyer syndrome) in two sisters and their mother's maternal aunt with a female phenotype [PDF]

, 2010
Gülseren Bağcı, Atıl Bişgin, Sibel Berker Karaüzüm, Bilal Trak, Güven Lüleci   +4 more
openalex   +1 more source

A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis

Journal of Clinical Endocrinology and Metabolism, 2017
P. Smirin-Yosef, N. Zuckerman-Levin, S. Tzur, Yaron Granot, L. Cohen, Juliane Sachsenweger, G. Borck, I. Lagovsky, M. Salmon-Divon, L. Wiesmüller, L. Basel‐Vanagaite   +10 more
semanticscholar   +1 more source

Rare case of complete gonadal dysgenesis in a female patient with primary amenorrhea and a 46XY karyotype. [PDF]

Clin Case Rep
Monolov N, Nurbekova U, Mamytova E, Unusov A, Osmonova M, Makambaeva M, Vityala Y, Tagaev T.   +7 more
europepmc   +1 more source

Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report. [PDF]

Exp Ther Med
Uyama T, Koh I, Komoshita T, Matsushima A, Ohara R, Nomura A, Enokizono Y, Sato Y, Nakamoto K, Morioka H, Oomori Y, Teraoka Y, Nosaka S, Tomono K, Sekine M, Yamazaki T, Mukai Y, Banno K, Kurahashi H, Kudo Y.   +19 more
europepmc   +1 more source

Two Sisters with Kallmann Syndrome, Gonadal Dysgenesis, and Multiple Neuromuscular and Endocrine Disorders: Report of Two Cases with Description of an Unusual Association. [PDF]

Reprod Sci, 2022
Camacho M, Castelo-Branco C.
europepmc   +1 more source

A Successful New Case of Twin Pregnancy in a Patient with Swyer Syndrome-An Up-to-Date Review on the Incidence and Outcome of Twin/Multiple Gestations in the Pure 46,XY Gonadal Dysgenesis. [PDF]

Int J Environ Res Public Health, 2022
Winkler I, Jaszczuk I, Gogacz M, Szkodziak P, Paszkowski T, Skorupska K, Ciebiera M, Skrzypczak M.   +7 more
europepmc   +1 more source

Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases [PDF]

, 2011
Vanessa Brito Campoy Rocha, Gil Guerra‐Júnior, Antonia Paula Marques‐de‐Faria, Maricilda Palandi de Mello, Andréa Trevas Maciel‐Guerra   +4 more
openalex   +1 more source

Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report. [PDF]

Medicine (Baltimore)
Yu T, Liu L.
europepmc   +1 more source