congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) (also known as adrenogenital syndrome) is a form of adrenal hyperplasia related to a variety of autosomal recessive disorders in adrenal steroidogenesis; characterized by low cortisol, low aldosterone, and androgen excess.

Clinical presentation

• virilization/genital ambiguity of female fetuses (due to androgen excess ) 
• electrolyte imbalance related to a salt-losing crisis 
• dehydration
• testicular masses

Pathology

Congenital adrenal hyperplasia is an autosomal recessive disorder of congenital cortisol synthesis enzyme deficiency:

• 21-alpha-hydroxylase deficiency: ~90% of cases
• 11-beta-hydroxylase deficiency 

Radiographic features

Ultrasound

• bilateral enlarged adrenal glands: size criteria are still debated (some suggest limb width >4 mm and length >20 mm)
• wrinkled surface of adrenals
• cerebriform pattern of the adrenal glands: characteristic sign
• normal ultrasound appearances may also be seen
• testicular masses may be identified representing adrenal rest tissue (see the article on testicular adrenal rests)

Differential diagnosis

• normal neonatal adrenal: can be differentiated from congenital adrenal hyperplasia (CAH) by the characteristic cerebriform appearance on sonography in CAH

Siehe auch:

• Nebennierenhyperplasie
• Adrenogenitales Salzverlustsyndrom

und weiter:

• Aromatase-Mangel
• Pubertas praecox
• amenorrhea
• Hyperandrogenämie