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ISSN 2500-7106 (Electronic)
ISSN 0123-2576 (Print)
Medicina & Laboratorio

2007, Number 09-10

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Medicina & Laboratorio 2007; 13 (09-10)

Caracterización clínica y epidemiológica de una cohorte de pacientes con hiperplasia adrenal congénita

Montoya TC, Román GA, Zapata GJ, Alfaro VJM, Balthazar GV

Language: Spanish
References: 20
Page: 451-460
PDF size: 1603.12 Kb.


ABSTRACT

The present study is retrospective, descriptive and based on the review of clinical histories of patients with congenital adrenal hyperplasia (CAH) evaluated at the service of Pediatric Endocrinology at the Hospital Universitario San Vicente de Paúl (HUSVP). Eighty two patients were included and they represented 7% of the consultation services. For most patients, the diagnosis was made in the first year of life (67,4%) and the most frequent clinical manifestations were saline crisis (43,3%) and ambiguous genitalia (37,3%). These data suggest a classic form of 21 hydroxylase deficit as the most frequent clinical presentation. One patient with an XY genotype showed ambiguous genitalia suggesting mutation in the 17α hydroxylase or in the 3β hydroxysteroid dehydrogenase gene. Interestingly, the majority of the parents proceed from the Aburra Valley and the Antioquenian East, suggesting an important population deviation of congenital adrenal hyperplasia according to the number of inhabitants of each region. This information warrants further investigation with screening studies in the Antioquenian East municipalities.


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