Congenital adrenal hyperplasia

Congenital adrenal hyperplasia is a group of autosomal recessive disorders characterized by impaired cortisol synthesis, and is one of the most prevalent autosomal recessive conditions in humans. It results from deficiency of one of the five enzymes required to synthesize cortisol in the adrenal cortex, with the 21-hydroxylase enzyme accounting for about 95 percent of cases. Manifestations vary by type and patient sex and can include salt-wasting crises, virilization of external genitalia in females, precocious or absent puberty, hirsutism, menstrual irregularities and infertility. Italian anatomist Luigi De Crecchio provided the earliest documented case description around 1865, from a cadaver examination that revealed ambiguous genitalia alongside internal female reproductive organs.