Endocrine Abstracts

History: A 38-year-old Afghan lady was referred for investigation of secondary amenorrhoea. She had had no menstrual periods since her first spontaneous pregnancy, except when recently taking a combined oral contraceptive pill (COCP). When living abroad, she conceived on three further occasions with clomiphene induction, resulting in two live births and one miscarriage. In addition, it was noted that she had never been able to breast-feed any of her children. She did not have ...

Background: Short Synacthen tests (SST) are both inconvenient and expensive, especially since the cost of tetracosactide recently increased 15-fold to over £45/ampule. A retrospective review was performed to see whether the number of SST’s could be reduced in our institution.Methods: All 76 adult inpatient (mean age 67) and 106 adult outpatient SST’s (mean age 50) from a 12-month period were reviewed for indication and whether a preceding ...

Background: Short Synacthen tests (SST) are inconvenient and expensive, especially since the cost of tetracosactide recently increased to over £45/ampule. Historic literature on the minimum 9 am cortisol required to avoid a SST ranges from 243 to 500 nmol/l and individual endocrinologist practice varies greatly.Methods: In an audit of all 182 SST’s from 1 year at our institution, either a previous 0900 h cortisol was recorded or the basal corti...

Background: Spontaneous coronary artery dissection (SCAD) is a rare condition, which is sometimes underdiagnosed in patients with chest pain and presumably normal coronaries. There have been a few case reports of patients with thyroid dysfunction and arterial dissections.Case: We present a 20 year old female with recent diagnosis of Graves’ thyrotoxicosis managed with methimazole. She initially presented in South Korea with shortness of breath on ex...

Case summary: A 55 year-old lady was referred by ophthalmology following diagnosis of bilateral central serous retinopathy, an accumulation of sub-retinal fluid at the fundus associated with Cushing’s syndrome. She also had proximal myopathy, bruising, centripetal weight gain and hypertension. Cushing’s was confirmed by 1 mg overnight DST (cortisol 581 nmol/L) and 48 hr-LDDST (407 nmol/L). 24 hr UFC was raised at 2666 nmol/L (12...

Case summary: A 55 year-old lady was referred by ophthalmology following diagnosis of bilateral central serous retinopathy, an accumulation of sub-retinal fluid at the fundus associated with Cushing’s syndrome. She also had proximal myopathy, bruising, centripetal weight gain and hypertension. Cushing’s was confirmed by 1 mg overnight DST (cortisol 581 nmol/L) and 48 hr-LDDST (407 nmol/L). 24 hr UFC was raised at 2666 nmol/L (12...

Oncogenic ostemalacia is a rare paraneoplastic syndrome characterised by renal phosphate wasting secondary to secretion of FGF-23 from mesenchymal tumours. Localisation of the tumour is wanted, as resection can lead to complete clinical and biochemical cure. We present a case of a 57 year old woman with a background of Vitamin D deficiency and secondary hyperparathyroidism, who presented with severe generalised aches and pain, worst in her ribs and thighs, such that she could ...

Background: Multiple endocrine neoplasia type 2 (MEN2) is a group of pleomorphic syndromes which infer a susceptibility to several endocrine conditions. The RET Val804Met mutation is classified as a moderate-risk mutation for familial medullary thyroid cancer (MTC), without the other components of MEN2 syndromes. However, here we describe a rare case of a gentleman with RET p.V804M, presenting with primary hyperparathyroidism (PHPT) and no evidence of MTC.<p class="abstext...

Hypophosphatemia is commonly missed due to nonspecific signs and symptoms. It can cause muscle weakness, confusion, white blood cell dysfunction and disrupt cardiopulmonary systems. Three main mechanisms of hypophosphatemia are shifts from the extracellular to intracellular compartment, increased renal excretion and decreased intestinal absorption. Here we report a case of symptomatic hypophosphatemia post ferric carboxymaltose (Ferrinject) infusion. A 42 year old lady with lo...

Autosomal dominant hypoparathyroidism (ADH) is caused by gain-of-function mutations in the calcium-sensing receptor (CaSR), increasing its sensitivity to extracellular calcium, suppressing PTH and resulting in hypocalcaemia. In contrast to idiopathic hypoparathyroidism, treatment to correct serum calcium results in high urine calcium excretion, causing nephrocalcinosis, stones and renal impairment. Unlike surgical hypoparathyroidism where calcium should be maintained, patients...