Endocrine Abstracts

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...

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...

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...

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 ...

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...