Androgen biosynthesis and gene defects

Abstract:

Formation of the male external genitalia in human beings requires the production of dihydrotestosterone during the critical period of sexual differentiation at 8-12 weeks of gestation. At this time, chorionic gonadotropin stimulates responsive Leydig cells to convert cholesterol to testosterone, which is converted to dihydrotestosterone in target tissues. Mutations in the genes encoding the enzymes, cofactor proteins, receptors, and stimulatory hormones involved in this process may disrupt various steps, leading to congenital anomalies in androgen production and male pseudo-hermaphroditism. This article describes the clinical and biochemical features of genetic mutations that impair enzymatic steps in dihydrotestosterone production.

Año de publicación:

2018

Keywords:

• Virilization
• Dihydrotestosterone
• Testis
• Cytochrome p450
• Hypogonadism
• Dehydrogenase
• steroidogenesis
• External genitalia
• androgen
• Testosterone
• Hydroxysteroid
• Disorder of sex development

Fuente:

scopus