A 15yr old girl presented with erratic periods and hirsutism, affecting her face, chest, abdomen and back. She had a background of premature adrenarche at the age of 5yrs. She attained menarche age 12 yrs. Her BP was normal, and she was of normal height and weight. Examination was normal apart from the excess hair.

Initial blood tests showed normal electrolytes and renal function. A screen of endocrine function showed raised testosterone and androstenedione, with normal ACTH, oestrogen, LH and FSH levels, with normal thyroid function. A short synacthen test showed a normal baseline cortisol with an exaggerated cortisol response to ACTH (peaking at 1060 nmol/l at 60mins), with a raised baseline 17-hydroxyprogesterone (13.9nmol/l) and elevated levels (86 nmol/l at 30 mins) following ACTH stimulation. Imaging showed slightly bulky adrenal glands and no evidence of polycystic ovaries. Both urine and serum steroid profiles showed excess 17-hydroxyprogesterone metabolites, in a characteristic pattern, suggestive of Congenital Adrenal Hyperplasia (CAH), secondary to partial 21-hydroxylase deficiency. There were also increased androgen and cortisol metabolites. Cortisol metabolites were higher than expected for a partial 21-hydroxylase deficiency, suggesting possible glucocorticoid resistance.

A genetic analysis revealed that in fact she was homozygous for a CYP21A2 mutation (c.844G >T, pVal²81Leu), confirming a diagnosis of non-classical CAH. Literature searching revealed that individuals with non-classical CAH typically have no evidence of excess ACTH or CRH, and may have an exaggerated cortisol response to ACTH, possibly secondary to subtle adrenal hyperplasia. Children typically present with either tall stature or premature pubarche, and adolescent girls with hirsutism and menstrual dysfunction. In younger children the aims of treatment of non-classical CAH are to ensure normal growth velocity and skeletal maturation and attaining puberty at a “normal” time. In adolescents and young women, the aim is to manage menstruation, improve hirsutism and acne, and optimise fertility. The new dilemma is now regarding management – should she be started on glucocorticoid replacement treatment, with all the associated side effects, to try and decrease her excess androgen production? Or is this something that should be managed symptomatically, with cosmetic intervention?