Congenital adrenal hypoplasia presenting as a chronic respiratory condition

Congenital adrenal hypoplasia presenting as severe respiratory failure.

1. Schwarz K, Thwaites R, Minford A, Day C, Butler G. Congenital adrenal hypoplasia presenting as a chronic respiratory condition. Arch Dis Child 2003; 88: 261-262. 2. Watterberg KL, Scott SM, Backstrom C, Gifford KL, Cook KL. Links between early Congenital adrenal hypoplasia is rare with an incidence of 1 in 12,500 life births. Links between early adrenal insufficiency and adverse respiratory ...

Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydro...

Familial congenital adrenal hypoplasia.

Adrenal hypoplasia is an invariable finding in infants with anencephaly. Hypoplastic adrenal glands have been described in infancy associated with congenital hypoplasia of the pituitary gland (Mosier, 1956). S;kl (1948) was probably the first author to describe congenital adrenal hypoplasia unassociated with other congenital abnormalities, though he mentions some similar cases described by earl...

Familial congenital adrenal hypoplasia.

Congenital adrenal hypoplasia was first described by Sikl (1948). Other reports appeared, and Mitchell and Rhaney (1959) recorded the first occurrence in a male sibship and suggested a familial basis. Boyd and MacDonald (1960) reported the necropsy findings in another pair of brothers who died in the neonatal period. The following report presents two further pairs of brothers born in Scotland w...

Congenital adrenal hypoplasia--an X-linked disease.