HIPERPLASIA ADRENAL KONGENITAL PADA GADIS BERUMUR TIGA PULUH ENAM HARI

Abstract

Congenital adrenal hyperplasia (CAH) is a group of disorders inherited by autosomal recessive pattern, resulting from deficiency of one of the five enzymes required for synthesizing cortisol in the adrenal cortex. CAH is one of the medical and social emergencies and can cause death due to adrenal crisis if not promptly recognized and treated. The Objective of this report case of Congenital Adrenal Hyperplasia in a one-month-old girl. The case this report is a girl, one-month-old was admitted with diarrhea and vomiting that occur since 3 days before admitted to the hospital. There was ambiguous genitalia since birth , no history of family with the same disease. The patient with 46 XX chromosome revealed hyperpigmentation and clitoromegaly. Laboratory findings there was hyponatremia and hypercalemia, a high level of 17-OH progesterone (768.0 nmol/L, N: 0.8–3.3 nmol/L), a high level of testosterone (68,0 ng/dL, N : 2-20 ng/dL). Abdominal ultrasonography revealed a hypoechoic structure posterior of the bladder, suspect uterus. Bone age was newborn (Greunlich and Pyle). She was treated with hydrocortisone and fludrocortisone. the Conclusion of this case of congenital adrenal hyperplasia with ambiguous genitalia in a female child aged one month. Diagnosis was based on clinical features, physical examination, laboratory and radiological finding. Prognosis of this patient is doubtful.