Curriculum · Metabolic and Endocrine and Diabetes Mellitus
Delayed puberty
What it is
Delayed puberty means puberty has not begun by 12-13 years in females and 13-14 years in males. At the other end of the same range, precocious puberty is puberty before 8 years in females and before 9 years in males.
Causes and risk
The causes of pubertal delay split into physiological and pathologic. The physiological one is constitutional growth delay, mostly familial, and it is diagnosed only when the others have been excluded. The pathologic causes split again. Hypergonadotropic hypogonadism is primary gonadal insufficiency, from Klinefelter syndrome, Turner syndrome or androgen insensitivity syndrome, or secondary gonadal insufficiency from chemotherapy, pelvic irradiation, infections, trauma or surgery, or autoimmune disease. Hypogonadotropic hypogonadism comes from CNS lesions, Kallmann syndrome, idiopathic hypogonadotropic hypogonadism, Prader-Willi syndrome or Gaucher disease. A third group sits outside both: malnutrition such as anorexia nervosa, and chronic diseases such as IBD, hypothyroidism and cystic fibrosis. Three of those are worth a line of their own. Kallmann syndrome is a rare genetic disorder of delayed or absent puberty, first described by Kallmann and Schoenfeld in 1944, often with a positive family history; it is caused by an inability to produce hormones for sexual maturation, secondary sexual characteristics are delayed in both males and females, and anosmia goes with it. Turner syndrome, 45 XO, brings gonadal dysgenesis with streak gonads leading to delayed puberty, primary amenorrhea and infertility, alongside webbed neck, low hairline, shield chest with widespread nipples, lymphedema, short stature, a bicuspid valve or coarctation of the aorta, horseshoe kidneys, osteoporosis and normal intelligence in most. Cystic fibrosis comes in through its reproductive manifestations, where delayed puberty sits beside infertility, with aspermia and absence of vas deferens, and beside amenorrhea.