Trastorno de diferenciación sexual por hiperplasia suprarrenal congenita. Reporte de un caso

Abstract

Congenital adrenal hyperplasia (CAH) is classified as an autosomal recessive disease, which develops due to mutations in genes encoding enzymes responsible for the production of glucocorticoids, mineralocorticoids, and sex steroids by the adrenal glands. The most common cause is the deficiency of steroid 21-hydroxylase due to mutations in CYP21A2. A clinical case is presented of a 13-year-old female adolescent patient with poor treatment adherence, exhibiting ambiguous genitalia characterized by the presence of a micropenis (clitoris), scrotalized labia majora, absence of testes, perineal hypospadias, short stature, hyperpigmentation of the genitals, neck, and face, Prader V syndrome, and the patient self-identifies as male. An ultrasound study demonstrates the presence of ovaries with normal characteristics, and the patient was diagnosed at three months of age.