Abstract

VALDES ALONSO, María del Carmen; BASAIN VALDES, José María  and  BIOTI TORRES, Yadenis. Congenital adrenal hyperplasia in simple classical virilizing form. Rev Cubana Pediatr [online]. 2014, vol.86, n.3, pp. 381-389. ISSN 0034-7531.

Steroid 21-hydroxylase is the most frequent form of congenital adrenal hyperplasia that is part of the sexual differentiation disorders. This article reported 3 cases. The first one was a 19 days-old infant who was taken to the doctor´s because of external genitalia disorders. The physical exam revealed augmented clitoris with urethral orifice in its basis and thickening of the labioscrotal swellings. The patient was diagnosed by means of gynecological ultrasound, sexual chromatin, hormonal studies and karyotype. The second case was a 15 days-old newborn, who was also taken to the doctor´s for external genitalia disorders. The physical exam was similar to that of the first case and the same complementary tests were performed for diagnosis. The third case was a 2 months-old infant who was taken to the medical service for the same reasons, and his physical exam showed clitoris hyperplasia, orifice in its base and thickening of labia majora that fused in the midline. The same complementary tests were indicated. The final diagnosis in these three cases was virilizing adrenal hyperplasia. They were all treated with hormone replacement therapy and reconstructive surgery of their external genitalia.

Keywords : congenital adrenal hyperplasia; steroid 21-hydroxylase; sexual differentiation disorders; 17 OH progesterone.

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