Beyond Binary: Gender Reassignment in a Case of 11β-Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) encompasses a spectrum of disorders characterized by enzyme deficiencies in the hormone biosynthesis pathways of the adrenal glands, resulting in impaired cortisol synthesis. These disorders are typically inherited in an autosomal recessive pattern. Numerous enzymes participate in the hormonal synthesis within the adrenal glands, and the clinical presentation of affected individuals exhibits significant variability, contingent upon the specific enzyme deficiency and its severity. In this case, we present a compelling instance of 11β-hydroxylase deficiency (11βOHD). The patient initially presented as a male, with complaints of early-onset hypertension and intermittent hematuria. He had a history of precocious puberty and had experienced a progressive increase in breast size. Subsequently, the patient was found to have an XX karyotype, and a pelvic ultrasound revealed the presence of a uterus, two ovaries, and a rudimentary vagina. Gender reassignment surgery was done to this patient. This intricate case underscores the critical importance of promptly recognizing and effectively managing CAH. Timely and appropriate treatment is pivotal in ensuring the well-being of affected individuals.