Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting.

ABSTRACT:

Introduction and importance

Disorders of Sexual Development (DSD) is a rare autosomal recessive genetic condition significantly affecting patients' lives in various aspects, particularly psychosocially. Type 2 5-α reductase is a cause of DSD 46,XY. It is rare to find multiple DSDs in the same family. Patients may present with amenorrhea and ambiguous genitalia. This case report is aimed to highlight the genetic aspects of the disease, the challenges to diagnostics and the various management options for the patients.

Methods

Case series of three siblings with DSD 46, XY with relevant discussion.

Outcomes

Three sisters, aged nineteen, seventeen, and fifteen years old came with an identical complaint of late menarche. Their physical examinations revealed elementary breas

SUBMITTER: Putri Susilo AF 

PROVIDER: S-EPMC9577524 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature