Endocrine Abstracts

Case history: Ectopic adrenocorticotropic hormone (ACTH) production accounts for 10–20% of all endogeneous Cushing’s syndrome. The ideal treatment is curative surgery of the underlying tumour. In difficult cases bilateral adrenalectomy is an option. We report a 58-year-old woman with an aggressive ectopic Cushing’s syndrome that required bilateral adrenalectomy undertaken in 1989 at age 32-years.Investigations: At 16 years post adrenalecto...

We here report the cases of two patients receiving glucocorticoid replacement, whose treatment has been guided by serum prednisolone measurements and whose day curves are presented below. Ms B was a 33-year-old patient who presented 3 years ago with panhypopituitarism following transsphenoidal surgery in 2012, for a sellar mass in a foreign country. She had already commenced 5mg prednisolone daily in addition to DDAVP, levothyroxine and the COCP. Having noticed mild weight gai...

17alpha hydroxylase deficiency accounts for less than 1% of all patients diagnosed with congenital adrenal hyperplasia. Almost 100 mutations in the CYP17A1 gene causing 17-hydroxylase/17,20-lyase deficiency (17OHD) have been described (OMIM 609300). CYP17A1 is expressed in both the adrenals and gonads. Hallmarks of 17OHD include hypertension, hypokalaemia, primary amenorrhoea and absence of secondary sexual characteristics. Most patients with 17OHD remain infertile.</...

A 59 year old man was referred to our endocrine service for persistently elevated prolactin levels. He did not report any headache, visual disturbance or galactorrhoea. He was diagnosed with schizophrenia in 1994 and was tried on different antiphychotic drugs until established on a combination of Amisulpride and Clozapine 11 years later. For the past years, his prolactin levels had been elevated ranging from 1477 to 1972 milliunit/L [60–300]. Further history revealed that...

A 56 years old lady was referred to our endocrine service for further management of levothyroxine replacement. She was diagnosed with Graves’ disease 26 years ago and underwent thyroidectomy as definite treatment. Post-operatively, she was commenced on 100mcg of levothyroxine and continued to have regular follow up with her GP. It was noted that her levothyroxine dose had to be reduced to 50 mcg daily over a period of 10 years due to persistently suppressed TSH levels wit...

A 42-year-old gentleman of Ghanaian origin presented with a one month history of worsening severe proximal myopathy. On presentation his symptoms had progressed to the extent that he was unable to mobilise from his bed. Prior to this illness he had been fit and well. Examination revealed severe proximal myopathy and a uniformly enlarged, smooth thyroid gland. There was no clinical evidence of hyperthyroidism. Blood tests on admission showed a serum potassium level of 2.1 mmol/...

Prohormone convertase 1/3 (PC1/3), encoded by protein convertase subtilisin kexin type 1 (PCSK1), converts inactive prohormones such as pro-opiomelanocortin, proinsulin, proglucagon into biologically active peptides. Inherited genomic mutations of PCSK1 present with malabsorptive diarrhoea, hyperinsulinemic hypoglycaemia, central adrenal and thyroid defects and severe obesity. Somatic mutations of insulinomas are associated with genetic defects interfering with insulin secreti...

Case history: A 54-year-old lady was diagnosed with primary hypoparathyroidism in 2005, after being referred by her Rheumatologist as her father and brother had familial hypoparathyroidism and sensorineural deafness. She was followed up in endocrine clinic for management of primary hypoparathyroidism. Her hypocalcaemia is well managed with calcium supplementation, with no specific symptoms of hypocalcaemia. She has recurrent urinary tract infections with known borderline chron...

A 48-year-old male presented with headache, cough and recurrent nose bleeds. Clinical examination showed saddle shape nose deformity. His past medical history included primary hypothyroidism diagnosed at the age of 10 years, was taking levothyroxine. His brother had a Rathke’s cleft cyst, surgically removed. His blood test were as follows: Sodium 125mmol/l, TSH 0.10mU/l, free T4 10.2pmol/l, freeT3 2.6pmol/l, cortisol < 28nmol/l, prolactin 240mU/l, FSH 1.8U/l, LH 0.3U/...

A 27-year old Caucasian woman was referred to the Endocrine Bone Clinic after investigations for general malaise revealed hypercalaemia and elevated parathyroid hormone levels. She had no history of constipation, abdominal pain, bone pain, or other related symptoms. She had no history of renal stones or fractures and no change in weight. Her past medical history included asthma and she took a salbutamol inhaler as required. She had no family history of endocrine pathology. Gen...