Puberty and its disorders

Abstract

• Puberty is defined as the acquisition of secondary sexual characteristics, with a view to reproductive capability. • Assessment of puberty can be done by Tanner stages or the puberty phases. • Timing of pubertal onset and sequence of changes is carefully controlled. • Premature sexual maturation: ◦ <8 years in girls; menarche <11 years ◦ <9 years in boys. • Central precocious puberty or gonadotropin-dependent precocious puberty: ◦ hormone secretion is similar to normal puberty ◦ may be idiopathic, genetic, or secondary to central nervous system/pituitary tumour or insult ◦ treatment is with gonadotropin-releasing hormone analogues. • Gonadotropin-independent precocious puberty (independent source of sex steroid, e.g. gonadal tumour): ◦ treatment should address the primary cause. • Late puberty: ◦ pubertal events within the later normal range. • Delayed onset of puberty: ◦ absence of secondary sexual characteristics: ■ >13 years in a girl ■ >14 years in a boy • Central causes (low follicle-stimulating hormone (FSH)/luteinizing hormone (LH)): ◦ chronic illness ◦ eating disorders ◦ physiological ◦ hypogonadotropic hypogonadism. • Peripheral causes (high FSH/LH): ◦ gonadal dysgenesis including chromosomal syndromes, e.g. Turner, Klinefelter ◦ gonadal damage including cancer treatments. • Treatment: ◦ low-dose sex hormone to induce growth and secondary sexual characteristics ◦ recombinant FSH/LH to induce fertility potential.