The 17-beta-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) enzyme converts
androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or …

Gonadal development is the first step in human reproduction. Aberrant gonadal
development during the fetal period is a major cause of disorders/differences of sex …

Purpose The etiology of 46, XY disorders of sex development (46, XY DSD) is complex, and
studies have shown that different series of patients with 46, XY DSD has different genetic …

The group of disorders known as 46, XY gonadal dysgenesis (GD) is characterized by
anomalies in testis determination, including complete and partial GD (PGD) and testicular …

Abstract Background Forty-six, XY Differences/Disorders of Sex Development (DSD) are
characterized by a broad phenotypic spectrum ranging from typical female to male with …

NR5A1/SF-1 (Steroidogenic factor-1) variants may cause mild to severe differences of sex
development (DSD) or may be found in healthy carriers. The NR5A1/SF-1 c. 437G> C/p …

Background: Disorders/Differences of sex development (DSD) are often due to disruptions of
the genetic programs that regulate gonad development. The GATA-4 gene, located on …

Background Differences of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. In more than 50% of human DSD …

MYRF-related cardiac urogenital syndrome (MYRF-CUGS) is primarily characterized by
anomalies of the internal and external genitalia, congenital heart defects, and eye …

Objectives To investigate the approach taken by clinicians involved in the diagnosis and
management of individuals with Differences of Sex Development (DSD), particularly with …