Hiperplasia congênita de suprarrenal por deficiência de 21-hidroxilase: relato de caso

Congenital adrenal hyperplasia by deficiency of 21-hidroxylase: case report

Abstract

This report describes a rare case of a patient with CAH on a late manifestation. The patient was a 14-years-old, white, presented primary amenorrhea and hirsutism on her first consultation at HCT gynecology clinic. It was observed a huge elevation on the 17-0H progesterone and an elevation on right adrenal volume with loss of its regular morphology on CT confirming parcial CAH diagnose. After starting prednisone she developed iatrogenical Cushing Syndrome and so it was replaced by dexametasone with excellent results. The objective of this study was to show different ways to manage this disorder and the importance of the early diagnosis in order to reduce morbidity and improve welfare to the patients.