In 46, XY men, testis is determined by a genetic network (s) that both promotes testis
formation and represses ovarian development. Disruption of this process results in a lack of …

Recently, a series of recurrent missense variants in the RNA-helicase DHX37 have been
reported associated with either 46, XY gonadal dysgenesis, 46, XY testicular regression …

Purpose NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic
pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and …

Background: DSD encompass a wide range of pathologies that impact gonad formation,
development, and function in both 46, XX and 46, XY individuals. The majority of these …

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 …

In a majority of individuals with disorders/differences of sex development (DSD) a genetic
etiology is often elusive. However, new genes causing DSD are routinely reported and using …

Objective To determine the genetic etiology of a family pedigree with two patients affected by
differences of sex development (DSD). Methods Assess the clinical characteristics of the …

Hypospadias, a malformation of male external genitalia, is characterized by an aberrant
opening of the urethra on the ventral side of the penis. It is considered a complex disorder …

Introduction: The pathogenic variants in DEAH-box RNA helicase DHX37 are one of the
major causes of 46, XY gonadal dysgenesis and testicular regression syndrome (TRS). To …

Background: DHX37 is an autosomal gene responsible for encoding a helicase from the
DExD/H-box family that plays an essential role in ribosome biogenesis. Variants in this gene …