Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
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چکیده
منابع مشابه
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...
متن کاملCongenital 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 ...
متن کاملFamilial 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...
متن کاملCongenital adrenal hyperplasia- presenting as central precocious puberty
Results 3 were boys, out of which 2 were twins. 3 boys were diagnosed to have CAH after presentation to the OPD. They had mean bone age of 12 years. They had elevated testosterone (mean : 2.4 ng/ml) and 17 hydoxyprogesterone ( mean : 24 ng/ml ) at presentation. They had clinical (testicular volume 5ml) and biochemical (mean basal LH : 6 ng/ml )evidence of central precocious puberty. The girl wa...
متن کاملFamilial 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...
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ژورنال
عنوان ژورنال: Case Reports in Endocrinology
سال: 2013
ISSN: 2090-6501,2090-651X
DOI: 10.1155/2013/393584