Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review.

ABSTRACT:

Background

46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application of cytogenetic and molecular genetic techniques.

Case presentation

We identified eight azoospermic 46,XX males who underwent infertility-related consultations at our center. They all presented normal male phenotypes. In seven of the eight 46,XX males (87.5%), translocation of the SRY gene to the terminal short arm of the X chromosome was clearly involved in their condition, which illustrated that this translocation is the main mechanism of 46,XX sex reversal, in line with previous reports. However, one patient presented a homozygous DAX1 mutation

SUBMITTER: Yue F 

PROVIDER: S-EPMC6827185 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature