Endocrine Abstracts

A 71-year-old gentleman was referred for investigation of bilateral enlarged adrenals first discovered after presenting with subacute bowel obstruction. A CT scan of his abdomen revealed the left adrenal was 8×5 cm, the right 3 cm. No other abnormalities were detected.

The patient was otherwise well. No other medical history was volunteered. On examination, he was of short stature (height 1.47 m) with a normal pattern of pubic and axillary hair. Blood pressure was 140/86 mmHg. Given his age, metastatic involvement of the adrenals was the primary diagnosis. Initial investigations revealed a low 0900 h cortisol. A subsequent short Synacthen test confirmed hypoadrenalism: baseline cortisol, 149 nmol/l; 30 min, 236 nmol/l; 60 min, 277 nmol/l; ACTH was 36 ng/l (<46; 0900 h). Urinary catecholamines were consistently normal. The patient was commenced on hydrocortisone treatment (15 mg at 0700 h and 10 mg at 1600 h) and proceeded to have further investigations which revealed normal fasting gut hormones, neurone specific enolase, and mIBG scan. He proceeded to have a CT guided adrenal biopsy which demonstrated features consistent with a primary adrenocortical tumour.

On further review, the patient had been treated for hypospadias as a teenager. He reported good libido, but suffered with erectile dysfunction and had never fathered a child. Examination of his external genitalia revealed an underdeveloped penis but no palpable testes. Gonadotrophins were elevated (LH 25.2 IU/l, FSH 32.4 IU/l), 0900 h testosterone was 13.2 nmol, but 17-hydroxyprogesterone was significantly elevated at 37.6. Renin activity was normal. His karyotype was 46XX consistent with late onset congenital adrenal hyperplasia (CAH). His bilateral adrenals were therefore consistent with hyperplasia of adrenal rest cells. The patient responded favourably to steroid replacement but was not informed of his karyoptype as he was happily married for 50 years.

This case illustrates a very unusual late presentation of CAH.