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

Anik A., Catli G., ABACI A., BÖBER E.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.5, no.4, pp.258-260, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 5 Issue: 4
  • Publication Date: 2013
  • Doi Number: 10.4274/jcrpe.1098
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.258-260
  • Keywords: Disorder of sexual development, XX male, SRY gene, XX MALES, REVERSAL, SRY, DIFFERENTIATION, DUPLICATION, GENE
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.