Steroid biosynthesis and metabolism are reflected by the serum steroid metabolome and, in
even more detail, by the 24-hour urine steroid metabolome, which can provide unique …

Ten years after the consensus meeting on disorders of sex development (DSD), genital
surgery continues to raise questions and criticisms concerning its indications, its technical …

Summary Background Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex
development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of …

Sex development relies on the sex-specific action of gene networks to differentiate the
bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of …

Abstract Introduction Disorders of Sex Development (DSD) are a wide range of congenital
conditions characterized by an incongruence of components involved in sexual …

Androgen insensitivity syndrome (AIS) is the most common specific cause of 46, XY disorder
in sex development. The androgen signaling pathway is complex but so far, the only gene …

Objective 5a-reductases are a family of isozymes expressed in a wide host of tissues
including the central nervous system (CNS) and play a pivotal role in male sex ual …

Gynecologic Oncologists are sometimes consulted to care for patients who present with
diverse gender identities or sexual orientations. Clinicians can create more helpful …

Background Patients with steroid 5α‐reductase 2 deficiency (5α‐RD) caused by SRD5A2
(OMIM# 607306) variants present variable genotypes and phenotypes. The genotype …

This article will review the embryological development of the testicles. However, to
understand the embryology of the testicles, it is essential to have a basic understanding of …