Abstract

HERNANDEZ GOMEZ, José Rafael; PRECIADO DELGADO, Charlia; PEREZ ALVAREZ, Olga Lidia  and  JUAN RODRIGUEZ, Jesús. Congenital adrenal hyperplasia related to hydroxilase-21 deficiency. A two-case report. Rev Ciencias Médicas [online]. 2006, vol.10, n.3, pp.101-110. ISSN 1561-3194.

Two infants presenting congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency were diagnosed in Endocrinology Service belonging to "Pepe Portilla" Pediatric Teaching Provincial Hospital, Pinar del Río, Cuba. Clinical differences among the infants affected in relation to sex were showed, making evident diagnostic difficulties in male infant, which increase the risk of severe electrolyte imbalance complications for life. Information about the entity was presented, revising its genetics and some advances for its early diagnosis.

Keywords : CONGENITAL ADRENAL HYPERPLASIA; GENITAL AMBIGUITY; SALT DEPLETION; NEONATAL DIAGNOSIS.

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