Endocrine Abstracts

Familial expansile osteolysis is a rare autosomal dominant disorder of bone, first described in a kindred from Northern Ireland in 1988. There are histological similarities to Paget's disease but the disorder typically presents in the young.Case report: Our patient presented at 15 years of age with sensorineural hearing loss, skeletal pain, gingival hypertrophy and mobile teeth. Neither parent was similarly affected. Radiographs demonstrated tooth root r...

Corticosteroids are major contributors to normal blood pressure control and to hypertension. The diagnosis of 'primary aldosteronism' based on raised aldosterone: renin ratios is now common although demonstration of an adrenocortical tumour remains rare. Moreover, the relationship between aldosterone and renin or angiotensin II in essential hypertension is often disturbed, suggestive of altered control of aldosterone biosynthesis. Aldosterone is synthesised from 11-deoxycortic...

Introduction. As for many minor metabolites of steroids, no authentic standard is commercially available for 18-OH-THA. This compound is the principal urinary metabolite of 18-hydroxycorticosterone, a putative intermediate in the synthesis of aldosterone and of diagnostic value in screening for hypermineralocorticoidism. Since de novo synthesis is time-consuming and expensive, we tested the possibility of using beta-cortol, which produces an ion at m/z 457 in common wit...

BACKGROUND: Healthy and Adult Growth Hormone Deficient (AGHD) women exhibit elevated leptin concentrations compared with men. AGHD is characterised by obesity and associated with increased leptin concentration and decreased leptin pulsatility, however the gender variation in rhythm and pulse parameters is yet to be defined. Following growth hormone replacement (GHR), leptin concentration decreases and pulsatility increases preceding a reduction in body fat mass (BFM).<p cl...