At a Glance Androgen insensitivity syndrome (AIS), previously named testicular feminization syndrome, is an X-linked recessive disorder causing failure of external male genitalia development in a patient with a 46,XY genotype. The mechanism of the disorder is androgen resistance, rather than androgen deficiency, hence the name change. Androgens are hormones required in male development. The…
At a Glance The normal pubertal onset occurs between 8 and 13 years of age for girls and 9.5 and 13.5 years of age for boys. Precocious puberty (PP) is defined as the development of secondary sexual characteristics in girls younger than 8 years of age and boys younger than 9 years of age. It…
At a Glance Hypergonadotropic hypogonadism, also called primary hypogonadism, is a disorder of abnormal function of gonads with decreased testosterone in males and estradiol in females, which results in delayed sexual development. The decreased sex hormone level stimulates increased production of gonadotropins due to diminished negative feedback mechanisms. The etiology of the condition can be…
At a Glance Any patient with delayed puberty characterized by absence of secondary sexual characteristics at 13 years of age for girls and 14 years of age for boys is a candidate for investigation of hypogonadism. In children younger than the age of puberty, any signs of abnormal external genitalia may prompt testing. Idiopathic hypogonadotropic…
