Endocrine Abstracts

This is the case of a now 37 years old female. She was diagnosed with classical salt wasting congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency at 1 week after birth. She highlights the challenges of living with CAH. She struggled all through her childhood and adolescence with the burden of treatment, difficulties with compliance and the effects of the inadequate control of hyperandrogenism. In adulthood supraphysiological doses of exogenous steroids lead to a number of medical problems including raised BMI, osteoporosis, Type 2 Diabetes and sleep apnea. She suffered infertility and the patient, and her partner, spent over a decade trying to conceive. The couple sought fertility treatments which were hindered by the patient’s obesity and the struggle to lose weight while taking steroids. The only break from the vicious cycle came after the difficult decision to undergo bilateral adrenalectomy despite the significant risks involved. The outcome was physiological steroid replacement, weight loss and spontaneous conception. After a relatively uncomplicated pregnancy, monitored closely in the maternal medicine clinic, she delivered a healthy baby girl at 37 weeks gestation by elective C-Section. Bilateral adrenalectomy is not recommended in published guidelines for the management with patients with CAH due to the risks of surgery, subsequent adrenal crisis in a group of patients who often struggle with compliance with treatment, as well as adrenal rest tumours particularly in men. The literature does however report successful management of selected patients with this approach. Our case demonstrates that with careful selection, counselling and consideration adrenalectomy can benefit women with CAH to normalise biochemical control, reduce corticosteroid doses and side effects and improve the chances of conception and motherhood.