Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both and occurs in 1:13,000 to 1:15,000 live births. It is estimated that 75% of patients have the salt-wasting phenotype. Adrenal crisis can occur as early as age one to four weeks old.
Objective: To demonstrate the case in children with congenital adrenal hyperplasia salt wasting type with adrenal crisis.
Case: We report a case of 1-day-old baby with lethargy and genitalia ambiguous as chief complaint. The patient was born with spontaneous labor with Apgar score 9/10 and without risk factor. A few hours later patient looked lethargy with poor feeding. Genitalia ambiguous was also found in this patient. Three previous children from the parents died before 1 year old due to diarrhea and vomiting. Physical examination revealed somnolence, dehydration, and poor sucking reflex. Laboratory result showed hypoglycemia (34 mg/dL), hyponatremia (119 mg/dL), hyperkalemia (6 mg/dL), blood gas analysis showed pH 7,337 BE -3 HCO3 20,4. Laboratory result of 17-OH Progesterone was normal (1,06 ng/dL) and plasma renin activity was elevated (18,09 ng/mL/jam). This result explained that the defect was not due to 21-hydroxylase deficiency as the common type of the disease. The chromosome analysis result showed 46-XX. The adrenal ultrasound revealed right adrenal was normal and left adrenal was difficult to evaluate. Hydrocortisone was administered in this patient as soon as the congenital adrenal hyperplasia diagnosed. Mineralocorticoid replacement and sodium supplementation were given in this patient. Currently, she is under follow-up without notable problems.
Conclusion: Infant with genitalia ambiguous and lethargy condition should be suspected having congenital adrenal hyperplasia with adrenal crisis and should be treated immediately.