Male Hypogonadism Due to a Mutation in the Gene for the β-Subunit of Follicle-Stimulating Hormone

TLDR

Pubertal development and fertility rely on hypothalamic‑pituitary‑gonadal interactions, with follicle‑stimulating hormone and luteinizing hormone produced as heterodimers that stimulate sex steroid production and gametogenesis. A mutation in the β‑subunit gene of follicle‑stimulating hormone was identified as the cause of male hypogonadism. No additional metadata provided.

Abstract

Normal pubertal development and fertility depend on the intricate interplay of hypothalamic, pituitary, and gonadal factors. Crucial in this respect are normal secretory patterns of follicle-stimulating hormone and luteinizing hormone. These hormones stimulate the production of estrogen and ovulation in women and the production of testosterone and spermatogenesis in men. Secreted from common gonadotroph cells, the hormones are heterodimers composed of a common α-subunit and a specific β-subunit, each encoded by a separate gene. Specificity of action depends on the recognition of these hormones by specific receptors on the surface of gonadal cells. Various genetic defects of the hypothalamic–pituitary–gonadal axis . ........