The majority of patients with congenital adrenal hyperplasia (CAH) present with a deficiency of 21-hydroxylase or 11-beta-hydroxylase, which account for 90% and 7% of cases, respectively. However, CAH due to 17α-hydroxylase deficiency (17OHD) is an extremely rare form of CAH (<1% of all CAH cases) that leads to a deficiency of cortisol and sex steroids, along with features of aldosterone excess. This is a case of a 51-year-old single female who was referred to us for the evaluation of new-onset hypertension and hypokalaemia of one-year duration. She was born out of a second-degree consanguineous marriage and reared as a female. She was diagnosed to have testicular feminization syndrome when she presented with a history of primary amenorrhea, absence of secondary sexual characteristics, and bilateral labial swellings at pubertal age. Subsequently, she underwent gonadectomy at the age of 16. Due to the presence of hypertension, metabolic alkalosis and bilaterally enlarged adrenals on CT scan, 46, XY disorders of sexual development (DSD) was considered. A karyotype confirmed the presence of 46, XY chromosomal sex, and genetic analysis revealed a mutation in the CYP17A1 gene, thus confirming the diagnosis of 17a-hydroxylase deficiency.
Disorders of Sex Development ; Adrenal Hyperplasia, Congenital ; Disorder of Sex Development, 46,XY

Oncocytic adrenocortical tumours (OATs) or oncocytomas are extremely rare and are usually benign and nonfunctional. We report the case of a 4-year-old male with a right-sided, functional oncocytic adrenocortical adenoma, who presented with precocious puberty and Cushing’s syndrome. After work-up, the patient underwent laparoscopic adrenalectomy. The excised adrenal mass weighed 21 g and measured 3.5 cm in maximum dimension. Histological examination demonstrated no features suggestive of aggressive biological behaviour. The patient had no features of recurrent or metastatic disease and had prepubertal testosterone levels with suppressed hypothalamic-pituitary-adrenal axis twelve months after the surgery. A discussion of this case and a review of the literature on functional OATs in the pediatric population are presented.