Endocrine Abstracts

Case history: 30-year-old female presented with subfertility for a year. She has had menarche at the age of 13 and regular periods for 2 years prior to commencing on hormonal contraception (initially COCP and then implant). Off contraception her menstrual cycles resumed after 6 weeks with a regular cycle length of 24 days. She has also suffered from generalised excessive body hair since young.

Investigations: Treatment and follow up: Following the diagnosis of NCCAH, she was commenced on Prednisolone 5 mg once daily. She has been having positive ovulation tests with LH surges mid cycle. Patient and her husband had genetic testing and counselling.

• She carried 2 pathogenic variants in CYP21A2 gene confirming NCCAH • Husband did not carry any pathogenic variant in the gene • Low risk of conceiving a child with classic CAH (congenital adrenal hyperplasia). USS pelvis at the end of menstrual cycle showed an endometrial thickness of 4.6mm. Therefore, in order to improve her chances in fertility prednisolone was increased to 2.5 mg three times daily. The plan is to reduce her prednisolone to 5 mg once daily when she successfully conceives, and to continue during the pregnancy. She would require IV hydrocortisone during the delivery.

Conclusions and points for discussion: CAH is a group of autosomal recessive conditions, which has varying degrees of enzyme deficiency in the steroid synthesis pathway. CAH is characterised by increased plasma 17-hydroxyprogesterone levels. Patients with NCCAH normally present with hirsutism or subfertility in adolescence or adulthood, in comparison to classic CAH patients who present with salt wasting and virilisation in the neonatal period. NCCAH is treated with corticosteroid replacement while achieving an adequate balance between androgen suppression and the effects of excess glucocorticoid replacement. Patient education on medication compliance, risk of addisonian crisis and sick day rules are important in the management of these patients. Treatment of affected women with corticosteroids reduce the degree of infant virilisation at birth on a female foetus. In NCCAH genetic testing (diagnostic on patient and screening on partner) is vital to identify their risk of conceiving a child with classic CAH. We did not do a synacthen test with 17-OHP levels as her levels were 76.9 nmol/l.