ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : Issue : Year : 2024
Forms

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
46,XX Male Disorder of Sexual Development: A Case Report [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2013; 5(4): 258-260 | DOI: 10.4274/Jcrpe.1098

46,XX Male Disorder of Sexual Development: A Case Report

Ahmet Anık1, Gönül Çatlı1, Ayhan Abacı1, Ece Böber1
Dokuz Eylul University Faculty Of Medicine, Department Of Pediatric Endocrinology, İzmir, Turkey

The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46, XX male is rare (1:20 000 in newborn males), and SRY positivity is responsible for this condition in approximately 90% of these subjects. External genitalia of 46,XX SRY-positive males appear as normal male external genitalia, and such cases are diagnosed when they present with small testes and/or infertility after puberty. Herein, we report an adolescent who presented with low testicular volume and who was diagnosed as a 46,XX male. SRY positivity was demonstrated in the patient by fluorescence in situ hybridization method.

Keywords: Disorder of sexual development,XX male,SRY gene

Ahmet Anık, Gönül Çatlı, Ayhan Abacı, Ece Böber. 46,XX Male Disorder of Sexual Development: A Case Report. J Clin Res Pediatr Endocrinol. 2013; 5(4): 258-260
Manuscript Language: English
LookUs & Online Makale