Searchable abstracts of presentations at key conferences in endocrinology

ea0005p162 | Growth and Development | BES2003

GATA3 missense mutation disrupts interaction with Friend of GATA 2 (FOG2) and causes the hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome

Nesbit M , Bowl M , Ali A , Thakker R

The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder that is due to mutations of the dual zinc-finger transcription factor, GATA3. The C-terminal zinc finger (ZF2) is crucial for DNA binding, whilst the N-terminal finger (ZF1) stabilizes the DNA binding by ZF2 and interacts with other multi-type zinc finger proteins, referred to as Friends of GATA (FOG), which modulate GATA3 function. The majority of GATA3 mutations causing HDR ...

ea0026p600 | Clinical case reports | ECE2011

Lady with backache and inadequate work-up for hypercalcemia for 5 years

Rizwan A , Jumani M , ali I , Jamal A , Sheikh Z

Introduction: Primary hyperparathyroidism affects 1% of the world’s population, with majority of cases due to benign parathyroid adenomas. Parathyroid cancer is a rare cause.Case report: This case report describes a 53-year-old lady presenting with nonspecific bone pains, whose initial workup revealed mild hypercalcemia and MRI lumbosacral spine suggestive of multiple myeloma. Subsequent work up, including two bone marrow examinations and serum prot...

ea0016p644 | Reproduction | ECE2008

The incidence of adiponectin gene polymorphism and its relation to serum adiponectin and androgen levels, insulin resistance and clinical parameters in polycystic ovary syndrome

Demirci Huseyin , Yurtcu Erkan , Yilmaz Murat , Ayvaz Goksun , Ergun M Ali , Arslan Metin

Aim: The present study was designed to examine the relationship between adiponectin gene (T45G in exon 2) polymorphism and clinical and hormonal characteristics in women with polycystic ovary syndrome (PCOS).Materials and methods: Ninety-six patients with PCOS and 93 healthy subjects were included in the study. Serum levels of sex steroids, insulin and adiponectin levels were measured. Insulin resistance was evaluated by homeostasis model assessment (HOM...

ea0007p70 | Diabetes, metabolism and cardiovascular | BES2004

The metabolic syndrome is common in type 2 but uncommon in type 1 diabetes mellitus

Al-Saraj F , McDermott J , McAteer S , Ali M , Tormey W , Sreenan S

Studies in the general population have shown a prevalence of the metabolic syndrome of 17-25%. We have studied the prevalence of the metabolic syndrome in patients with diabetes mellitus (DM). A total of 150 consecutive patients with type 1 (21%) or type 2 DM (79%), mean age 59.1y (28-85), attending for annual review were studied to determine if they satisfy (ATP III) diagnostic criteria for the metabolic syndrome. Fasting plasma glucose, triglycerides, HDL cholesterol, blood ...

ea0020p240 | Bone/Calcium | ECE2009

The effect of short term human chorionic gonadotropin treatment on the improvement of bone mass in patients with hypogonadotropic hypogonadism

Bolu Erol , Sonmez Alper , Apikoglu Mehmet , Gurel Hasan , Emer Ozdes , Taslipinar Abdullah , Ozguven M Ali , Kutlu Mustafa

Background: Idiopatic hypogonadotropic hypogonadism is a congenital abnormality due to GnRH deficiency which is associated with severe osteoporosis. Testosterone replacement has been shown to improve the loss in the bone mass. The aim of the present retrospective analysis was to measure the effect of human chorionic gonadotropin treatment on the improvement of bone mineral density.Methods: A total number of 96 young male (mean age 21±3.7 years) pati...

ea0049gp84 | Diabetes & complications 2 | ECE2017

Antidiabetic medication use and the risk of fracture in type 2 diabetic patients: a nested case-control study

Losada Eladio , Soldevila Berta , Ali M. Sanni , Martinez-Laguna Daniel , Nogues Xavier , Diez-Perez Adolfo , Puig-Domingo Manel , Mauricio Didac , Prieto-Alhambra Daniel

Background: Patients with type 2 diabetes mellitus (T2DM) have an increased risk of fragility fractures. Anti-diabetic oral agents and insulin may also impact on fracture risk. There is however scarce data available on the effect of such therapies combined as usually prescribed in real-life practice conditions.Objectives: The objective of this study was to compare the risk of fracture among T2DM patients who are users of different antidiabetic treatments...