Naslov
A rare case of male sex reversal syndrome (46,XX) with negative SRY gene: a disorder of sexual differentiation (DSD)

Autori
M. Požgaj Šepec, L. La Grasta Sabolić, H. Karnaš, F. Stipoljev, G. Stipančić.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Horm Res Paediatr 20122 ; 95(Suppl 2):1-616. ESPE (European Society for Pediatric Endocrinology) 60th Annual Meeting, Rome, Italy 15th – 17th September 2022. / - , 2022, 378-378

Skup
ESPE (European Society for Pediatric Endocrinology) 60th Annual Meeting, Rome, Italy 15th – 17th September 2022.

Mjesto i datum
Rim, Italija, 15.09.2022. - 17.09.2022

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
SOX3 ; XX males ; disorders of sex development

Sažetak
The 46, XX testicular disorder of sex development (DSD) is a rare genetic condition and clinical phenotype shows complete sex reversal from female to male. The sex- determining region Y (SRY) gene can be identified in most 46, XX testicular DSD patients, but approximately 20% of patients are SRY-negative. We report a 1.3 -year old SRY/negative 46, XX boy with complete sex reversal caused by SOX3 duplication

Izvorni jezik
Engleski

Znanstvena područja
Interdisciplinarne biotehničke znanosti, Integrativna bioetika (prirodne, tehničke, biomedicina i zdravstvo, biotehničke, društvene, humanističke znanosti)

POVEZANOST RADA