Endocrine Abstracts

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders characterised by enzyme defects in the steroidogenic pathways involved in the biosynthesis of cortisol, aldosterone and androgens. 21-hydroxylase deficiency accounts for more than 90% of cases.

Case history: 41-yr-old female was referred to Endocrinology with a serum testosterone of 14.3 nmol/l (0.20–2.86). She was a full term baby born to non-consanguineous parents. At the age of 2 years she was admitted to a hospital being poorly and was treated with IV fluids’. Age of 7–8 years was started on Dexamethasone, Hydrocortisone and Fludrocortisone. She achieved menarche at the age of 17 years, had regular cycles, severe acne and hirsutism. Age of 30 years she stopped all tablets and did not attend her appointments. She gained weight, developed abdominal striae, hirsutism got worse and stopped her periods. On examination, BMI of 38.9 kg/m² with Male pattern hair loss, marked facial hirsutism, thick coarse skin, acne, acanthosis nigricans and Clitoromegal. Investigation: sr testosterone 14.3 nmol/l ((0.20–2.86), FSH:<0.8 IU/l (2–9), LH:<0.2 IU/l (2–9), 17-Hydroxyprogesterone:>152, Androstenedione 45 nmol/l (2–4) DHEA 4.1 umol/l (1.6–7.8) and Haemoglobin: 180 g/l (120–160). CT scan of the abdomen showed hypertrophy and nodules in both adrenals, 6 cm mass in the medial limb of the left adrenal which contained fat and calcification and a large fibroid uterus. On an Ultrasound the right ovary measured 30 × 25 × 20 mm and the left ovary measured 23 × 14 × 15 mm. A diagnosis of Classical Congenital Adrenal Hyperplasia, Probable virilising form was made. Treatment options were discussed with the patient and decided to have bilateral adrenalectomy. The histology showed bilateral florid adrenal hyperplasia with multiple myelolipomas and bilateral adrenal cortical tumours. Started on hydrocortisone and fludrocortisone. One month post operatively her sr testosterone was 0.8 with normal FSH and LH. Her 17 OHP was 4.3. She lost weight and restarted her periods.

Conclusion: The case describes a natural course of less severe forms of CAH in a noncompliant patient Management of congenital adrenal hyperplasia (CAH) involves suppression of the hypothalamic-pituitary-adrenal (HPA) axis using supraphysiological doses of exogenous glucocorticoids. This can pose a challenge, with Cushing’s syndrome and poor compliance. Bilateral adrenalectomy, with subsequent replacement of glucocorticoids and mineralocorticoids at physiological doses, has been proposed as an alternative therapeutic strategy in carefully selected patients who have had unsatisfactory outcomes with conventional medical management.

Reference: Phyllis W. Speiser. Congenital Adrenal Hyperplasia. F1000Research 2015.