Endocrine Abstracts

Introduction: Hurler Syndrome, (MPS1H) is an inborn error of metabolism which was previously fatal in childhood. Bone marrow transplantation (BMT) has transformed the prognosis for these children. First BMTs are preconditioned with chemotherapy, and we have therefore put in place surveillance for endocrine sequelae. We present for the first time data on final adult height in children with MPS 1H post BMT, as well as the endocrine complications seen in this cohort.<p class=...

Introduction: The role of hormones and their underlying mechanisms in the development of osteoporosis are complex and not completely understood. Serum SHBG concentration is increased in older men and may be correlated with reduced bone mineral density and increased fracture risk. However, there is little data on exact relation of BMD with 24-h mean concentration and circadian rhythm of SHBG.Methods: We measured 24-h mean SHBG concentration in 3 groups of...

MEN2B is the most aggressive form of MEN2. Consequently, the new American Thyroid Association guidelines recommend prophylactic thyroidectomy early in the first year of life. Ninety-seven percentage of MEN2B cases result from a germline methionine to threonine mutation at codon 918 (M918T) of the RET proto-oncogene. In addition, an exceedingly rare alanine to phenylalanine mutation at codon 883 (A883F) has been reported in 4 unrelated adults. In each case metastatic MTC and th...

Primary hyperparathyroidism (PHP) can be isolated or a part of MEN especially in the younger patient. We report a 20-year lady presenting in early July-08 with vomiting, abdominal pain and general ill-health. On admission she was pale and dehydrated, with Hb 10.1 g/dl, urea 9.1 mmol/l, creatinine 105 μmol/l, alkaline phosphatase 1568 μ/l (30–130 μ/l) and adjusted calcium 3.92 mmol/l. Her sister reportedly has been investigated in a different hospital for PH...

Somatostatin is an inhibitory regulator with important cellular effects whose actions are mediated through the G protein-coupled somatostatin receptors 1-5 (sst1-5). We have previously described the existence of sst2 in human endometrium, but the expression for other isoforms was unknown. The precise control of cellular proliferation and angiogenesis in the endometrium is not yet fully understood, and we hypothesise that somatostatin may have a role.<...

Introduction: It is not known if non-alcoholic fatty liver disease (NAFLD) predates type 2 diabetes. We will study the prevalence of NAFLD in women with previous gestational diabetes (GDM), a population at ≥60% risk for the development of type 2 diabetes, while glucose tolerance is non-diabetic. It is not known if hepatic fat accumulation in NAFLD is disproportionate to fat accumulation in other tissues. We aim to study the association between fat in the liver and in tis...

Introduction: The effect of oestrogens on the male skeleton has been demonstrated in a number of studies and oestradiol (E2) plays an important role in regulating bone mineral density (BMD). The concentration of bioavailable oestradiol (BE), rather than total oestradiol (TE), is associated with bone loss in elderly men.Oestradiol circulates in the bloodstream in one of three forms: bound to SHBG; bound to albumin; and unbound/free. The albumin-bound plus the free fraction comp...

Non-alcoholic steatohepatitis is part of the spectrum of non-alcoholic fatty liver disease. It is characterised by triglyceride deposition in the liver associated with a lobular hepatitis and elevated circulating aminotransferases. It is associated with insulin resistance and commonly occurs in Type 2 diabetes but is much less widely recognised in patients with Type 1 diabetes.A 29 year old Caucasian male with longstanding Type 1 diabetes presented with ...

PCOS is the most common endocrine disorder of premenopausal women. The in utero testosterone-treated ewe shares several key features with PCOS women (sub/infertility, multi-follicular ovaries, hypersecretion of gondotrophins and androgens) and, therefore, may be a useful animal model for this condition. In addition to reproductive abnormalities, PCOS women are at increased risk of hyperinsulinaemia and insulin resistance. The aim of this study was to determine if similar metab...

Type 2 diabetes is associated with insulin resistance, failure to suppress lipolysis and EGP and impaired FFA oxidation. It is not known which defect develops first.Eleven European women with previous gestational diabetes (PGDM) and normal glucose tolerance post-partum, as a high risk group for the development of Type 2 diabetes, and 11 matched controls (BMI 23.8±4.5 kg m-2 versus 24.6±4.9 kg m-2 respectively) were stu...