Congenital Adrenal Hyperplasia. Case Report

Authors

  • Carlos Felipe Ponce Médico Residente primer año de Pediatría, Universidad Nacional Autónoma de Honduras en el Valle de Sula UNAH-VS
  • Elba Campos Pediatra Endocrinóloga Hospital Nacional Mario Catarino Rivas. HNMCR
  • Alex Milán Gómez Inestroza Cirujano-Urólogo Pediatra HNMCR

DOI:

https://doi.org/10.5377/pediatrica.v4i2.2227

Keywords:

Congenital adrenal hyperplasia, steroid 17-alpha- hydroxylase, steroid 21- hydroxylase, virilism

Abstract

Congenital Adrenal Hyperplasia (CAH) is a genetic endocrine disease. In 90% of cases are caused by mutations in the CYP21A2 gene encoding the adrenal steroid enzyme 21-hydroxylase (21-OH) involved in the steroidogenesis. This causes hypersecretion of Adrenocortico- tropic Hormone (ACTH), leading to abnormally high production of adrenal androgens.

This is a newborn with ambiguous genitalia characterized by hypertrophy of the clitoris, with hyperpigmented skin in the genital area, labioscrotal midline fusion and urogenital sinus below the phallus or clitoris of about 1 mm in diameter. No gonads were palpated. The sonographic study reported adrenal glands within normal limits, normal sized and shaped uterus. No presence of testes was observed. Early diagnosis allowed the initiation of treatment in the first days of life with subsequent prevention of complications.

Acta Pediátrica Hondureña, Vol. 4, No. 2 / Octubre 2013 a Marzo 2014: 313-317

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Published

2015-11-29

How to Cite

Ponce, C. F., Campos, E., & Gómez Inestroza, A. M. (2015). Congenital Adrenal Hyperplasia. Case Report. Acta Pediátrica Hondureña, 4(2), 313–317. https://doi.org/10.5377/pediatrica.v4i2.2227

Issue

Vol. 4 No. 2 (2014)

Section

Clinical Cases