Endocrine Abstracts

We present the case of a 33-year-old woman diagnosed with congenital adrenal hyperplasia (CAH) due to classical 21-hydroxylase deficiency following a salt-losing crisis as a newborn. She had previously been controlled on dexamethasone 0.25 mg bd and fludrocortisone 100 mcg od, as evidenced by high-normal 17-hydroxyprogesterone (17-OHP) and low-normal testosterone levels (8.5 and 0.4 nmol/l respectively).However, she had experienced significant symptoms o...

A 69-year-old lady presented with pancreatitis, which was managed conservatively and resolved. However, imaging identified a 4 cm left adrenal lesion. She had no features of Cushing’s syndrome, and was normotensive, but serum potassium was low. Renin:aldosterone ratio was normal. She failed a low dose dexamethasone suppression test (LDDST). She underwent laparoscopic adrenalectomy. Histology showed an adrenocortical carcinoma extending into the adjacent adipose tissue. Si...

A 21-year-old female patient was referred from the eye clinic after she was noted to have bilateral papilloedema during a routine eye examination. She gave a 3 months history of intermittent headaches and fleeting episodes of profuse sweating and rash, unrelated to the headaches. She had been investigated by the GP with routine blood tests which were found to be normal.On examination, she was noted to be tachycardic at 100 beats/min and hypertensive at 1...

This gentleman was diagnosed with hyperparathyroidism at the age of 34 and was found to have multiple manifestations of MEN1.Hyperparathyroidism: He was diagnosed with hyperparathyroidism and underwent a parathyroidectomy with removal of 2 glands. Four years later calcium levels were raised once again and two further hyperplastic glands were removed, with cure of his hypercalcaemia.Gastrinoma and other pancreatic islet cell tumours...

A 36-year-old gentleman presented to his GP 2 years ago with hypertension and was commenced on valsartan. In January 2008, he was noted to have mildly deranged LFT and abdominal ultrasound scan showed mild fatty liver infiltration and bilateral renal stones. He was referred to Urology for investigation of renal stones and a CT IVU showed multiple renal calculi, a 6×5×5 cm soft tissue enhancing lesion arising from the right adrenal gland and a 7 mm calcified density w...

A 19-year-old man was referred to Endocrinology Clinic with a minimally raised calcitonin level. He had a past history of primary hyperparathyroidism resulting in renal colic aged 17 years, and underwent three gland parathyroidectomy aged 18 years. Histology demonstrated a single right lower parathyroid adenoma with normal thyroid biopsy. He has no family history of endocrine disease and is a non-smoker. His calcium has remained normal since with detectable PTH. Over 5 years t...

Optimal management of familial medullary thyroid cancer (MTC) involves early genetic diagnosis of affected individuals and prophylactic thyroidectomy. Patients diagnosed later may have biochemical evidence of metastases which are clinically silent. We report a family which illustrates the management difficulties which may arise with this approach. SC, a healthy 25-year-old man, presented for assessment for MTC. His mother had had a total thyroidectomy for MTC with no clinical ...