Pubertal development: normal, precocious and delayed.
The present concepts on the neuroendocrine mechanisms which trigger pubertal development and modulate the progression towards sexual maturity have been reviewed. Essentially, puberty is presented as a continuum, the programming of which is initiated prenatally and which ends in adult life when all hormonal secretions become autoregulated. This continuum is dependent on a delicate equilibrium between CNS neurohormones (GnRH), neurotransmitters (biogenic amines), pituitary gonadotrophin (FSH, LH) secretion and the end-organ response (testis or ovary) through the activation of specific membrane receptors. The gonadal sex steroids (T, OE2) will activate specific cytoplasmic and nuclear receptors of target tissues and exert their biological action. Initially, the activity of the HPGA is manifested by nocturnal LH peaks, followed by increased gonadal secretion of T or OE2. Extremely sensitive to negative feedback by circulating androgen and/or oestrogen in prepuberty, an hypothalamic regulatory system called the gonadostat increases its threshold of sensitivity and eventually becomes autoregulated at a higher feedback level. Progressively, the hypothalamus becomes sensitive to positive feedback action of gonadal hormones, this phenomenon being important for the onset of ovulation. It is likely also that adrenal androgens play a permissive and supportive role in the onset and progression of pubertal development. Finally, full maturity is reached, with final adult height through fusion of the epiphysis, and fertility is achieved. The clinical manifestations of each developmental stage of puberty are described and abnormalities of sexual development reviewed. While over 90 per cent of cases of precocious pubertal development are idiopathic in girls, a space-occupying lesion in the hypothalamic-pituitary region is frequent in boys. Dissociated pubertal signs (premature adrenarche, pubarche, thelarche, menarche) are discussed, together with diagnosis and treatment of precocious puberty, whether it is idiopathic or occurring independently of the activation of the HPGA. In addition to delay of puberty on a constitutional basis, or related to chronic endocrine or non-endocrine diseases, the main clinical entities with gonadal insufficiency, primary (hypergonadotrophic) or secondary (hypogonadotrophic), are reviewed in boys and girls and their investigation and treatment discussed.
D000293:Adolescent; D000728:Androgens / Q000097:blood; D002648:Child; D004967:Estrogens / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D007987:Gonadotropin-Releasing Hormone / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D011388:Prolactin / Q000097:blood; D011627:Puberty; D011628:Puberty, Delayed / Q000209:etiology / Q000503:physiopathology*; D011629:Puberty, Precocious / Q000503:physiopathology* / Q000628:therapy; D011956:Receptors, Cell Surface / Q000502:physiology
D000728:Androgens; D004967:Estrogens; D011956:Receptors, Cell Surface; D007987:Gonadotropin-Releasing Hormone; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone