2016, Number 3
Congenital adrenal hyperplasia. Case presentation
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Language: Spanish
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ABSTRACT
Background: Adrenal hyperplasia, congenital is the most common adrenal disorder in children, a frequent cause of femenine pseudohermaphroditism and sexual ambiguity. The deficiency of the 21 hydroxylase enzyme is the most common cause, occurs between 90 and 95 % of the cases. The incidence of the disease is at about 1:14 000 births. The determination of hormone 17 hydroxyprogesterone on the fifth day of birth facilitates diagnosis and adequate treatment. Case report: We describe the diagnosis of a 9 days old femenine infant with a prenatal history of high obstetric risk, with no clinical manifestations of adrenal loss, a discrete physical examination of virilization (moderate clitoris hypertrophy) and elevated levels of 17 hydroxyprogesterone, which was confirmed with serum hydroxyprogesterone at 9 days, was positive and before the prenatal history, the diagnosis and timely treatment was decided. Conclusion: Adrenal hyperplasia, congenital was diagnosed in a 9-day-old femenine newborn, counseling was given to her relatives, medical treatment with hydrocortisone and fluorhydrocortisone was indicated, followed by consult with the adrenal hyperplasia, congenital program and molecular study was made to determine enzymatic deficit.REFERENCES
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