Endocrine Abstracts

Context: Germline mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to head and neck paraganglioma (HNPGL), sympathetic PGL, phaeochromocytoma and renal cell carcinoma for which regular surveillance is required. SDHB-associated tumors harbor germline and somatic mutations, consistent with Knudson’s two-hit hypothesis stating that the combination of an inactivating germline mutation as a first hit and somatic loss of funct...

Primary aldosteronism (PA) is a major cause of secondary hypertension. Among PA, the diagnosis of an aldosterone-producing adenoma (APA) is critical because an APA can be cured surgically. Adrenal venous sampling (AVS) is the golden standard test in the diagnosis of an APA, but is available only in specialized medical centers. Meanwhile, aldosterone secretion of an APA is reported to be more sensitive to ACTH than that of idiopathic hyperaldosteronism (IHA) or essential hypert...

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Rickets is a condition only seen in growing children due to disorders that result in impaired apoptosis of hypertrophic cells and mineralisation of the growth plate and osteoid. Although there are a variety of causes of rickets vitamin D deficiency remains the commonest cause worldwide with evidence of a resurgence in some developed countries.There are several modes of presentation of vitamin D deficiency dependent on the age and growth rate of the child...

What do we mean by ‘osteoporosis’? Essentially, bone of reduced mass that is abnormal at a micro-architectural level, with an increased propensity to fracture. The detection of such abnormality is not straight-forward. Any bone will fracture given sufficient force, and it might be thought that restricting further investigation to those who fracture following mild or trivial trauma would be the way forward. Defining what level of trauma should be regarded as ‘mil...

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders causing deficient cortisol synthesis. The commonest cause, 21-hydroxylase deficiency, accounts for about 90–95% of cases. Other entities such as deficiencies of 11β-hydroxylase, 17α-hydroxylase, 3β-hydroxysteroid dehydrogenase type 2, and P450 oxidoreductase are considerably rarer. The differential diagnosis has to be established as different forms of CAH will require different...

Non-functioning pituitary adenomas (NFAs) are benign pituitary neoplasms arising from the adenohypophyseal cells. They are not associated with clinical evidence of hormonal hypersecretion and have a prevalence of 22 cases per 100,000 people. At presentation, the majority is macroadenomas and their clinical manifestations are the result of pressure effects to surrounding structures.Management options include observation, surgical removal combined or not w...

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Excess weight/obesity is a major risk factor for type 2 diabetes. Mechanisms linking obesity to insulin resistance in other liver and skeletal muscle are of considerable interest and the role of adipokines, in particular adiponectin, has come under considerable interest. Adiponectin is exclusively produced by fat cells but its circulating levels are paradoxically reduced in obesity. Current weight of evidence from prospective studies suggest that high adiponectin levels are pr...

Bjorntorp first coined the term ‘metabolic syndrome’ (MS) in the 1980’s to describe the association between obesity, regional fat distribution, disease endpoints and their risk factors (cardiovascular disease, premature death, stroke, non-insulin-dependent diabetes mellitus and female carcinomas). This description also recognised the potential contribution from adreno-cortical activity and stress. Since that time a plethora of research has highlighted the causat...