Results 71 to 80 of about 5,340 (169)

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

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

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

Anti-Ma2 encephalitis in a phenotypic female with XY gonadal dysgenesis: A case report. [PDF]

Epilepsy Behav Rep, 2023
Alsuwaidi S, Kamalboor H, Khairi T, Almadani A.   +3 more
europepmc   +1 more source

A rare case of mixed gonadal dysgenesis in adulthood: diagnostic delay and unique outcomes. [PDF]

J Surg Case Rep, 2023
Rueangket P, Phansenee S, Laoharojvongsa N, Boonyachan W.   +3 more
europepmc   +1 more source

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis. [PDF]

Life (Basel), 2023
de Oliveira FR, Mazzola TN, de Mello MP, Francese-Santos AP, Lemos-Marini SHV, Maciel-Guerra AT, Hiort O, Werner R, Guerra-Junior G, Fabbri-Scallet H.   +9 more
europepmc   +1 more source

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy). [PDF]

Balkan J Med Genet, 2023
Cobanogullari H, Akcan N, Ergoren MC.
europepmc   +1 more source

Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis. [PDF]

J Med Genet, 2023
Meinel JA, Yumiceba V, Künstner A, Schultz K, Kruse N, Kaiser FJ, Holterhus PM, Claviez A, Hiort O, Busch H, Spielmann M, Werner R.   +11 more
europepmc   +1 more source

Urological management in a pediatric patient with mixed gonadal dysgenesis. [PDF]

Urol Case Rep
Chipa Beizaga WM, Orbegoso Celis LJ, Torres Marigorda BJ, Aguilar Ulloque MM, García Murga KN, Linares Vega V, Imán Izquierdo FJ, Aquino-Ortega R, Del Valle-Mendoza J, Silva-Caso WG.   +9 more
europepmc   +1 more source

Gonadal Dysgenesis [PDF]

, 2020
openaire   +2 more sources