A young patient with severe virilization, hypertension and bilateral adrenal hyperplasia

We describe an unusual late presentation of 11β-hydroxylase deficiency in a severely virilized, 23 year old patient, who presented with intracerebral haemorrhage, hypertension and short stature. The patient was raised as a male but had hypospadias, absent testicles from birth and had precocious puberty during his childhood. Plasma testosterone level was elevated (16 ng/mL) with suppressed FSH and LH levels (< 1 U/L). Basal 17-hydoxyprogesterone was markedly elevated (>19.2 ng/mL-ref range: 0.5-2.1 ng/mL). CT scan abdomen showed bilateral marked adrenal hyperplasia with mullerian structures and karyotyping showed 46 XX with negative sex-determining region Y (SRY) test. A clinical diagnosis of 11β- hydroxylase deficiency was made in view of hypertension with severe virilization in a 46 XX individual. The patient was managed with antihypertensive drugs, monitoring of serum testosterone and 17- hydroxyprogesterone levels since she the patient decided to remain as a male.

DOI: http://dx.doi.org/10.4038/sjdem.v3i2.6370

Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2013; 3: 91-94