Endocrine Abstracts

Introduction: NICE recommends annual screening for diabetic retinopathy in children with type 1 diabetes aged over 12 years and/or with duration of diabetes over 5 years. This audit aimed to evaluate patient attendance for retinopathy screening, to identify the prevalence of retinopathy and maculopathy and to ascertain characteristics of patients.Methods: This was a retrospective audit of patients attending for eye screening from January 2008 to April 20...

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: Disorders of sexual differentiation (DSD) are uncommon and pose many challenges to families affected and clinicians. The genotypic 46XY male with female phenotype form an interesting group with diverse presentation. We studied all such children attending our multidisciplinary DSD clinic. Only in a minority of these children did newborn examination raise the possibility of DSD. Delays in identifying these abnormalities can cause significant psychological difficult...

Adenosine 5′-monophosphate-activated protein kinase (AMPK), a regulator of energy homeostasis, has a central role in mediating the appetite-modulating and metabolic effects of many hormones and neuromodulators. We previously demonstrated similar neuroendocrine activation of AMPK in bone-forming osteoblasts. In this study, we tested whether stimulation of AMPK activity in osteoblasts plays a role in their function and whether deletion of the catalytic AMPKα1 subunit,...

Background: Effective acclimatization to high altitude involves a natriuresis and diuresis facilitated by a suppressed aldosterone. Acute mountain sickness (AMS) is common but poorly understood. A cardiac hormone, brain natriuretic peptide (BNP), is released primarily in response to cardiomyocyte stretch but animal models suggest BNP secretion is also stimulated by acute hypoxia. An increase in BNP causes a diuresis, natriuresis and a reduction in aldosterone. We hypothesized ...

Background: The Endocrine Society clinical practice guidelines suggest use of the 1 mg overnight dexamethasone suppression test (ONDST) to screen for cortisol excess in patients with adrenal incidentalomas, followed by the 48-h, 2 mg/day, low-dose dexamethasone-suppression test (LDDST), to confirm a positive result. Visceral fat accumulates in cortisol-excess and accounts for increased cardiovascular risk. In this study, we investigate whether the LDDST offers additional infor...

Introduction: The Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked condition characterised by reduced renal water clearance and hyponatraemia resulting from gain of function mutations in the type 2 Vasopressin (AVP) receptor (AVPR2). Female carriers were thought not to express a phenotype. We describe a kindred with NSIAD, highlighting molecular and physiological characteristics that extend understanding of this condition and of AVP production.<p c...

Objective: Gestational thyroid dysfunction and gestational diabetes mellitus (GDM) are common complications during pregnancy and often co-occur. Since thyroid hormones increase glucose uptake and insulin sensitivity, it has been hypothesized that hypothyroidism might increase the risk of GDM. Our aim was to study if maternal thyroid function test abnormalities are risk factors for GDM.Methods: A systematic search of Ovid MEDLINE, EMBASE and Web of Scienc...

The RET receptor tyrosine kinase is an established oncogenic driver in multiple cancers. Activating RET point mutations give rise to the cancer syndrome Multiple Endocrine Neoplasia type 2 (MEN2), characterized by medullary thyroid carcinoma and pheochromocytoma. Correlations of specific RET mutations with MEN2 disease phenotypes and severity have been well documented, however the molecular mechanisms that distinguish the functions, locations, and protein interactions of speci...

Objective: To investigate performance of sex hormone binding globulin (SHBG) assays of different manufacturers and the effects of assay choice on calculated free testosterone (cFT).Methods: Anonymized serum samples of 113 men and 106 women were randomly selected from excess material from the routine clinical lab at the University Hospital of South Manchester. SHBG levels were measured using three different immunoassays (...