Endocrine Abstracts

A 34 year old male diagnosed with congenital adrenal hyperplasia (21 hydroxylase deficiency, salt wasting variety) shortly after birth. Initial presentation was poor feeding with hypoglycemia, pigmented scrotum with elevated 17-OH progesterone. He had a right orchidopexy at age 9 for undescended testis. He was admitted multiple times with adrenal crises during his childhood. He went through puberty and achieved height of 177 cm which is 75th centile. His sister also has CAH. He did not attend our service between the age of 23 and 34 and was followed up with his local endocrinologist. He was referred back to our service at the age of 34 after attending a fertility specialist with azospermia on the background of testicular adrenal rest tumors (TARTs) diagnosed at age 30. Previous semen analysis showed oligospermia. He was receiving prednisolone 2.5 mg BD and fludrocortisone 0.1 mg OD. His most recent symptoms are ongoing fatigue, snoring at night time, back pain and hip pain. His last DXA scan showed osteopenia. His most recent 17-OH progesterone is 35.6 nmol/l (1.90–6.90), Androstenedione is 28.9 nmol/l (2.0–10.47), Direct Renin Concentration is 283.4 mIu/l (9–103.5), ACTH is 42.8 pg/ml (7.2–63.3).

Questions: 1) What is the optimal management of his CAH?

2) How do we induce fertility in patients with CAH and TARTs?