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 …

It is paramount that any child or adolescent with a suspected difference or disorder of sex
development (DSD) is assessed by an experienced clinician with adequate knowledge …

Transcriptional regulators related to the invertebrate sexual regulators doublesex and mab-3
occur throughout metazoans and control sex in most animal groups. Seven of these DMRT …

Disorders (or differences) of sex development (DSD) are a heterogeneous group of
congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired …

Background Next-generation sequencing (NGS) is generally used for patients with severe
disorders of sex development (DSD). However, NGS has not been applied extensively for …

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 …

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 …

The pathways of gametogenesis encompass elaborate cellular specialization accompanied
by precise partitioning of the genome content in order to produce fully matured spermatozoa …

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 …