46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review.

ABSTRACT:

Background

The development of the testes is a tightly regulated process, requiring the coordination of multiple genes. Mutations in these genes can result in 46,XY gonadal dysgenesis. NR0B1, located at Xp21, is a gene expressed in the developing adrenals, gonads, hypothalamus, and pituitary gland. Duplication of this area causes dosage sensitive male-to-female sex reversal and involves multisystem abnormalities. The heterogeneity in clinical phenotypes is attributed to variations in the size of the duplicated segments. Herein, we present a case with 46,XY disorders of sex development and muscular dystrophy due to Xp21 duplication.

Case description

A 5-month-old boy was admitted to our hospital due to gonadal dysgenesis. The patient was born to a healthy couple after 3

SUBMITTER: Zheng XQ 

PROVIDER: S-EPMC11621888 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature