Congenital Adrenal Hyperplasia. Case Report
DOI:
https://doi.org/10.5377/pediatrica.v4i2.2227Keywords:
Congenital adrenal hyperplasia, steroid 17-alpha- hydroxylase, steroid 21- hydroxylase, virilismAbstract
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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