Searchable abstracts of presentations at key conferences in endocrinology
Volume 2 | SFE2001 | Next issue

192nd Meeting of the Society for Endocrinology

ea0002p45 | Genetics | SFE2001

Exercise-induced, ACE genotype-dependent rise in serum Angiotensin I-Converting Enzyme

Woods D , Saunders J , Jones A , Hurel S , Jamshidi Y , Hawe E , Goldstone J , Gohlke P , Humphries S , Montgomery H

Background: The ACE I/D polymorphism of the ACE gene, associated with cardiovascular risk and athletic performance, accounts for half the variation in resting ACE. DD subjects have the greatest, ID intermediate, and II subjects the lowest serum ACE. Exercise stimulates the renin-angiotensin system, producing a rise in angiotensin II. 3 small (n=6-8) lab studies suggest serum ACE does not change with exercise, despite a rise in angiotensin II, whereas 2 other studies have demon...

ea0002p46 | Genetics | SFE2001

Klinefelter-like phenotype and primary infertility in a male with an Xq inversion

Gallen I , Levy E , Crocker M , Maher E , Nemeth A

Klinefelter syndrome is an abnormality of sexual development which is usually characterised by the chromosome complement of 47,XXY, although occasionally patients may have multiple X or Y chromosomes, may be mosaic with 46, XY, 47,XXY or have an X-autosome translocation. We present the case of a 43 year old male patient with the phenotypic appearance of Klinefelter syndrome and primary infertility, who was found on karyotype analysis to have an hitherto undescribed inversion o...

ea0002p47 | Genetics | SFE2001


Chiriaeva N , Weitzel J , Seitz H

The FAD-dependent, mitochondrial glycerol-3-phosphate dehydrogenase (mGPDH) is essential for the transport of reducing equivalents derived from glycolysis (or in sperm fructolysis) into the mitochondrial compartment for the synthesis of ATP. It has been shown that multiple (three) promoters of the mGPDH exist so that the expression is regulated in a tissue-restricted manner. Promoter A is expressed in brain, brown adipose tissue and pancreas, promoter B is ubiquitous and promo...

ea0002p48 | Genetics | SFE2001

Association analysis of the Deleted in colorectal carcinoma (DCC) gene in Graves' disease

Jennings C , Imrie H , Vaidya B , Kendall-Taylor P , Pearce S

Graves' disease (GD) is inherited as a complex trait and previous studies have identified linkage and association of both GD and type 1 diabetes to markers on chromosome 18q21. A candidate gene for autoimmunity that is contained within the critical interval on 18q21 is the apoptosis regulator 'Deleted in Colorectal Carcinoma' (DCC).317 Graves' disease probands and 311 controls were genotyped for a single nucleotide polymorphism that encodes a glycine to ...

ea0002p49 | Genetics | SFE2001

A Case of Mu1tiple Endocrine Neoplasia Type 1 (MEN1) Caused By A New Genetic Mutation

Soran H , Murray L , Ellis I , Ellard S , English P , Jones I

Introduction: The MEN1 is inherited as autosomal dominant trait. In MEN 1 families a deletional mechanism of the regulatory gene appears to be the base of the syndrome.Case 1: 40-year-old lady presented with a two-day history of headaches, blurred vision and funny turns, culminating in loss of consciousness and a generalised tonic-clonic seizure. Her GCS was 3; she was intubated, ventilated and referred to ICU. U+Es normal, Calcium high, phosphate low, a...