Pubertal Delay and Hypogonadism

Delayed puberty occurs when no signs of pubertal maturation are seen by 14 years of age in boys or 13 years in girls. Although constitutional delay of growth and puberty is commonly seen and is often regarded as benign, there are many other causes of pubertal delay that ultimately result in permanent hypogonadism, and these must be differentiated from self-limited delays in maturation. Causes of hypogonadism include disorders affecting the gonads (primary hypogonadism) and abnormalities of pituitary or hypothalamic function (hypogonadotropic hypogonadism). Hypogonadotropic hypogonadism may be part of a more global set of pituitary deficiencies or may be the only endocrine axis affected. A rapidly growing array of genetic disorders accounts for isolated hypogonadotropic hypogonadism. Treatment of delayed puberty often consists of short-term administration of sex steroids to those with constitutional delay, while individuals with permanent hypogonadism require long-term testosterone or oestradiol replacement.