Endocrine Abstracts

Introduction: Distal renal tubular acidosis (RTA) can have varied presentation. Onset in infancy is usually severe. However, adolescent onset has variable presentation ranging from hypokalemia to nephrocalcinosis, and rarely with rickets or growth retardation. We describe a girl with distal RTA presenting with hypokalemia and growth retardation.Case: 12 year old girl presented with recurrent episodes of weakness of all four limbs and failure to gain heig...

Purpose: Available data associate lipids concentrations in men with BMI, anabolic steroids, age, and certain cytokines. Data are less clear in women, especially across the full adult lifespan, and when segmented by pre- and postmenopausal status.Methods: Subjects: 120 healthy women in Olmsted County, MN, USA, a stable well studied clinical population. Dependent variables: measurements of 10-hr fasting high-density lipoprotein cholesterol (HDL-C), total c...

Endometrial cancer (EC) is estrogen dependent and several enzymes control the local availability of these steroids by activating (i.e. aromatase, sulfatase, 17beta-hydroxysteroid dehydrogenase type 1 – HSD17B1) or deactivating estrogens (sulfotransferase, 17beta-hydroxysteroid dehydrogenase type 2 – HSD17B2). Imbalances in these enzymes are implied in EC development.In the present study, it is evaluated whether imbalances in these enzymes are a...

Introduction: Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors arising from chromaffin cells within adrenal medulla and autonomic paragranglia respectively. Recent evidences show that nearly one-third patients harbour germline mutation, namely in von Hippel-Lindau (VHL), REarranged during Transfection (RET), neurofibromatosis type 1 (NF 1) and succinate dehydrogenase (SDH) complex genes. However, the tumor morphology arising in various syndrom...

The cyp19 encodes cytochrome P450aromatase, the key enzyme catalyzing the conversion of androgens to estrogens. Estrogens play a critical role in controlling functional, behavioral and physiological aspects of sexual development both in males and females. Except in Anguilla anguilla, most teleosts studied so far possess two cyp19 genes namely, cyp19a and cyp19b; ovary- and brain-specific respectively. In the present study made in tw...

Background: National Institute for Health and Clinical Excellence (NICE) guidelines advise that GDM be diagnosed using a 2-hr 75 g oral glucose tolerance test (OGTT). However there is lack of consensus on the optimal postpartum surveillance. Current postpartum screening guidance suggests a single fasting plasma glucose (FPG) at 6-weeks with annual testing thereafter. As women with GDM are often from mixed ethnic groups and frequently have postprandial hyperglycaemia, ...

Background: It is well established that subclinical hypothyroidism (SCH) is associated with mild ventricular dysfunction and early cardiovascular disease (CVD), but it is unknown if there is an underlying defect in cardiac bio-energetic function.Objective: To quantify the cardiac phosphocreatine/ATP (PCr/ATP) ratio in SCH, compare with healthy controls (HC) and to measure the effect of 6 months of thyroxine treatment.Method: Cardia...

Background: The hypothalamus is a critical area of the brain involved in the regulation of appetite. Cerebellin1 (Cbln1) is a highly conserved 16 amino acid neuropeptide. High levels of Cbln1 mRNA expression are found in specific hypothalamic areas involved in appetite regulation.Aim: To examine the effects of Cbln1 on food intake in rodents.Methods: 1. Ad libitum fed rats were injected intracerebroventricularly (ICV) with Cbln1 (1...

Introduction: Congenital adrenal hyperplasia (CAH) is an inherited disorder, most commonly caused by enzymatic deficiency of 21-hydroxylase (CYP21A2). The non-classic or late-onset form is one of the most common autosomal recessive diseases in women, but the diagnosis is only rarely made in men unless they happen to present with testicular or adrenal masses or infertility.Case report: A 65-year-old man presented with recurrent episodes of postural dizzin...

Background: Prolactin (PRL) secreting pituitary tumours are the most frequent causes of hyperprolactinaemia in clinical practice.Case: A 78-year old man presented with gradual visual deterioration over two years particularly affecting left eye and getting progressively worse. Formal visual field testing suggested grossly constricted field defect in left eye and superior temporal field defect in right eye. Examination showed no features of acromegaly. Sta...