introduction the current study introduces a case with adrenal insufficiency that was suspected to have congenital adrenal hypoplasia because of undescended testis and failure to thrive due to muscle involvement. case presentation the patient was a 34-month-old boy who had loss of consciousness, hypotension, hypoglycemia, hyponatremia and hyperkalemia with severe failure to thrive, hyper pigment...

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...

CONTEXT X-linked adrenal hypoplasia congenita (AHC) is a rare but important cause of primary adrenal insufficiency and can be associated with significant morbidity and mortality. AHC is caused by mutations within the NROB1 gene that codes for the DAX-1 protein, an orphan nuclear receptor essential for the development of the hypothalamic-pituitary-adrenal axis. Affected individuals typically pre...

UNLABELLED INTRODUCTION X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the firs...

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 ...

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...

X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1), and can occur as part of a contiguous gene deletion syndrome in association with glycerol kinase (GK) deficiency, Duchenne muscular dystrophy and X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) gene defici...