Monogenic Disorders of Puberty

Extract

Normal puberty is associated with the onset and progressive activation of the hypothalamic-pituitary-gonadal (HPG) axis and the resultant development of secondary sexual characteristics. Puberty begins with increasing nocturnal pulsatile hypothalamic GnRH secretion, which gradually occurs throughout the 24-h day. Pulsatile GnRH stimulates pituitary FSH and LH secretion, ultimately stimulating gonadal steroid production and gametogenesis in females and males. In the ovary, FSH stimulates follicular maturation and estrogen production through aromatization of androgens, whereas LH stimulates androgen production by theca cells, triggers ovulation, and maintains progesterone production by the corpus luteum. In the testis, FSH acts on Sertoli cells to initiate spermatogenesis and LH acts on Leydig cells to stimulate testosterone production.

The hypothalamic-pituitary-adrenal (HPA) axis also has some minor input into the physiological process of puberty, through the secretion of adrenal androgens. However, the major involvement of the HPA axis in puberty is in its potential pathological influence, primarily in accelerating its onset and/or progress.