Congenital adrenal hypoplasia is rare with an incidence of 1 in 12,500 life births. Links between early adrenal insufficiency and adverse respiratory outcome are scarce in the literature.

A term male infant was born by a normal delivery. His birth weight was 3,400 g along the 50th centile. Respiratory symptoms were present at birth, requiring about 30% of incubator oxygen for 3 days. His chest X-ray was normal. He developed mild jaundice and he was discharged home weighing 3,160 g. He was readmitted after 10 days with tachypnea, jaundice, addisonian skin hyperpigmentation, and vomiting. Weight was along the 10th centile. He was alert with periods of drowsiness and bouts of vomiting. His bilirubin was high with normal ALT, AST and elevated GGT: 842 U/L, LDH: 1029 U/L and CK: 1682 U/L, Hypoglycemia (Glucose: 30 mg/dL) was evident only once. His acid balance showed a metabolic alkalosis. Ammonia level was high (ammonia: 113-173 µmol/L). Urea cycle defects and glycosylyation disorders were excluded. Rest of metabolic screen was normal.

A synacten test established the diagnosis of adrenal insufficiency as his clinical condition deteriorated, with convulsions, circulatory collapse, drowsiness and respiratory failure together with progressive hyponatremia, hyperkalemia and low urea. He was intubated and vigorous treatment with hydrocortisone 25-50 mg/m2/d together with 9a-fluoro-hydrocortisone 0.1mg/d and NaCl supplements were introduced. He showed a dramatic improvement being extubated after 24 hours. Special investigations excluded congenital adrenal hyperplasia. Plasma renin; 759 pg/mL (NR: 2.4-65.6) was elevated and plasma aldosterone: 9 ng/dL (NR: 5-132) was low. MRI showed normal adrenal and hypothalamo-pituitary glands.

Acute respiratory failure has been described once before(1) as clinical feature of congenital adrenal hypoplasia, although there is reference in the literature of oxygen dependency(2). Our patient although born at term, by normal delivery, developed mild respiratory distress, and by the time of acute illness the respiratory symptoms were prevailing without an obvious underlying lung pathology.

Congenital adrenal hypoplasia although a rare condition should be suspected in case of acute respiratory failure, electrolyte disturbances and/or hypoglycemia in every severely ill neonate, and blind treatment should immediately initiated while awaiting investigations results.

An X-linked mode of inheritance as part of contiguous gene syndrome, associated with Duchenne muscular dystrophy and/or glycerol kinase deficiency(3) is the most probable mode of inheritance in our patient due to his elevated creatine kinase. Other modes of inheritance such as autosomal recessive and X-linked mode have also been described(4).

M. Dasopoulou,
G. Baroutis,
Neonatal Department Alexandra Hospital,
Athens, Greece.
E-mail: [email protected]

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 adrenal function and respiratory outcome in preterm infants: airway inflammation and patent ductus arteriosus. Pediatrics 2000; 105: 320-324.

3. Cole DE, Clarke LA, Riddell DC, Samson KA, Seltzer WK, Salisbury S. Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: Importance of laboratory investigations in delineating a contiguous gene deletion syndrome. Clin Chem 1994; 40: 2099-2103.

4. Lalli E, Bardoni B, Zazopoulos E, Wurtz JM, Strom TM, Moras D, et al. A transcriptional silencing domain an DAX-1 whose mutation causes adrenal hypoplasia congenita. Mol Endocrinol 1997; 11: 1950-1960.