Congenital Adrenal Hyperplasia due to 21 Hydroxylase deficiency. A case report.

Abstract

A patient with congenital adrenal hyperplasia by deficit of 21-Hydroxylase is presented; she was the first patient detected by neonatal screening program in Ciego de Avila, that allow an early diagnosis and opportune treatment and avoided a fatal outcome during the adrenal crisis. The incidence in the caucasian population is 1/12000. This patient presents consanguinity familiar antecedents and the diagnosis suggests the presence of ambiguous genitals (Prader IV) at the time of delivery, the adrenal crisis initiate in the thirteenth day of life, characterized by a curve of weight flat, vomits, irritability, pale skin, livedo reticularis; the complementaries show: 17OH progesterone 97 nmol/L in two occasions; oral chromatin 25%; ionogram: Na+ 120 mmol/L., K+ 6.5 mmol/L; gasometry: PH 7.26, PO2 45.3 mmHg, ABE -8.2 mmol/L, PCO2 41.7 mmHg, sO 77.0% y SBC 17.5 mmol/L. In her sixth day of life this patient received treatment with prednisona at the rate of 5mg/SC/day; later, Fludrocortisone 0.05mg/24h was included.