Endocrine Abstracts

Idiopathic infantile hypercalcemia (IIH) constitutes a broad group of diseases with a common outcome namely, hypercalcemia. It is now recognized that mutations of the vitamin D catabolic cytochrome P450, CYP24A1 represent one of the major causes of IIH. Patients often present in neonatal life with transient hypercalcemia, but adults with hypercalciuria, renal stones & nephrocalcinosis also appear with CYP24A1 defects. Recently, there have been reports that pregnant females...

Summary: This audit highlights a shortfall in healthcare provision when discussing the potentially sensitive issue of obesity. Given the significance of complications in pregnancy, and in future life, discussing such issues openly and encouraging patient responsibility without blame is integral to optimise antenatal benefit.Introduction: The prevalence of obesity is increasing in the UK. Obesity in pregnancy is associated with various maternal and fetal ...

Androgen deprivation therapy (ADT) when used in the treatment of prostate carcinoma produces a severe state of hypogonadism. Several but not all epidemiological studies have reported that there is an increased incidence of cardiovascular disease (CVD) including myocardial infarction, life threatening arrhythmias, diabetes and sudden cardiac death (1). Studies have also shown that ADT causes adverse effects many within three months on several key cardiovascular risk factors. Th...

The mechanisms through which pancreatic beta cells recognise and respond to external signals Type 2 diabetes is becoming increasing well understood, but we have less understanding of how the responses of individual cells are integrated within the islet of Langerhans. Islets are heterogenous organs containing a variety of endocrine cell types including beta, alpha, delta and PP cells which synthesise and secrete insulin, glucagon, somatostatin and pancreatic polypeptide, respec...

: 39Y old male who was originally treated as child with CAH secondary to 21-Hydroxylase deficiency and was put on glucocorticoids and mineralocorticoids from first week of life due to salt wasting crises. He has had very high 17-OH progesterone and adrenal androgen due to noncompliance. He developed polycythemia secondary to androgen excess, resulted in venesection. Haematologist have investigated the mutation and EPO measurement and he felt that this was probably secondary po...

Low testosterone is associated with an increased prevalence of cardiovascular (CV) disease. Testosterone replacement improves several CV risk factors including lowering cholesterol and may protect against atherogenesis. Macrophage liver X receptor α (LXRα) stimulates cholesterol efflux which is a therapeutic target for the treatment of atherosclerosis. It was therefore proposed that the anti-atherogenic effect of testosterone may be mediated via LXRα. THP-1 macr...

Hyperparathyroid jaw tumour syndrome is a familial form of primary hyperparathyroidism. Individuals are predisposed to develop parathyroid carcinomas (15%), ossifying fibromas of mandible and maxilla (30%), renal abnormalities including cystic lesions and hamartomas, and uterine tumours (1,2). The pathogenic mutation is in CDC73 gene (previously known as HRPT2 and C1orf28) inherited in an autosomal dominant manner.Our patient was the first person in the ...

Hyperparathyroid Jaw tumour syndrome is a familial form of primary hyperparathyroidism. Individuals are predisposed to develop parathyroid carcinomas (15%), ossifying fibromas of mandible and maxilla (30%), renal abnormalities including cystic lesions and hamartomas, and uterine tumours (1, 2). The pathogenic mutation is in CDC73 gene (previously known as HRPT2 and C1orf28) inherited in an autosomal dominant manner.Our patient was the first person in the...

Low testosterone is associated with an increased prevalence of cardiovascular (CV) diseases such as atherosclerosis. Testosterone replacement improves several CV risk factors including lowering cholesterol. Liver X receptor α (LXRα) is present in various cell types such as macrophages where it stimulates cholesterol efflux and this ability means LXRα agonists are a potential therapy for atherosclerosis. It was therefore proposed that testosterone acts to reduce ...

Education surrounding steroid replacement is vital in the optimal management of patients with adrenal deficiency. Non-adequate replacement may be life-threatening, especially in case of severe physical stress, and unfortunately, acute adrenal failure is still a major cause of death. Our Endocrine Specialist Nurse Service is actively involved in the day-to-day management of patients with adrenal insufficiency offering advice and support during patient visits following referral ...