Врожденная гиперплазия коры надпочечников вследствие недостаточности 3-бета-гидроксистероиддегидрогеназы

Определение

A very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.