Betancourt LY, Santana HEE, Almenares GA, Sánchez RLA

Language: Spanish
References: 21
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ABSTRACT

Introduction: congenital adrenal hyperplasia is an enzymatic disorder of the adrenal glands, with autosomal recessive inheritance. The 21-hydroxylase enzyme deficit represents 95% of the diagnosed cases; considered potentially serious and lethal, it requires early diagnosis.
Objective: molecular characterization of first-degree relatives and neonates, who by screening, are diagnosed with congenital adrenal hyperplasia.
Method: a cross-sectional descriptive study, series of cases type, of all infants diagnosed with congenital adrenal hyperplasia through screening, was done in the province of Holguin comprising the period between January 2005 and December 2012. Molecular studies were carried out with these patients and their first-degree relatives to know the causative mutations.
Results: the mutations were identified in three families, representing 37.5%. Three healthy and one sick carrier mothers were identified; and among the fathers, 25% presented mutations, one healthy and one sick carrier. The most frequently found mutation was the one of Intron 2 in 50% of first-degree relatives, and several combinations in the active gene and the pseudogen.
Conclusions: identifying the mutations that cause the disease in these families, helped to determine family members with genetic risk, design strategies in future pregnancies, and offer the possibility of carrying out prenatal studies which allow for treatment in positive cases.

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