Endocrine Abstracts

Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the RET proto-oncogene, encoding a receptor tyrosine kinase, on chromosome 10. It has a strong penetrance of medullary thyroid carcinoma (MTC) and can be associated with bilateral pheochromocytoma and primary hyperparathyroidism. MEN 2 is divided into three varieties depending on clinical features: MEN 2A, MEN2B and FMTC (familial MTC...

One major issue regarding the clinical use of many peptides is their short half-life span in the body, due to the rapid clearance from the circulation. Thus, at the clinical level, there is a need for a regime of frequent injections of the peptides into the patients to overcome this low stability factor. To overcome this problem, we succeeded to add the signal sequence of O-linked oligosaccharides to the coding sequence of the hormones. The cassette gene that has been u...

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Azoospermia is a common condition of about 10% of all infertile men and this most severe clinical phenotype of male infertility can – in an otherwise healthy man – regularly be considered to have a genetic basis. An association of chromosomal aberrations and Y-chromosomal AZF-deletions with spermatogenic failure is well-established. However, since the latter were described over 10 years ago, basically no genetic causes have been found although many re-sequencing stud...

There have been enormous advances in the medical and surgical management of pituitary tumours in recent years. Stereotactic radiotherapy has also allowed the use of more focused fractionated radiotherapy in the hope of minimising bystander damage and the long term sequelae of radiotherapy to the surrounding normal brain tissue.With these advances, the number of patients requiring salvage treatment of any kind is reducing, and concerns persist about the l...

Infants rarely present with truly ambiguous genitalia and such children should be evaluated by experts who work within a multidisciplinary team that is dedicated for evaluation and management of children and adults with suspected and confirmed disorders of sex development. The paediatric endocrinologist who is a vital, and often, the central member of this clinical team needs to lead the clinical evaluation of the infant systematically but also needs to be sensitive to the nee...

The relationships between alterations in hormones with the clinical features of senescence remain unclear in ageing men. We have investigated the natural history of and risk factors for potential adverse consequences associated with low testosterone in the European Male Ageing Study (EMAS), a population-based prospective cohort study of 3369 men (aged 40–79 years) from the general population of 8 European countries. A wide variety of clinical variables pertinent to genera...

Epidemiologic studies have associated low testosterone levels with increased cardiovascular mortality in men, the mechanism of which is unclear. However, low testosterone levels have been linked to the development of cardiovascular risk factors including metabolic syndrome, regardless of the definition employed. This relationship has been observed in epidemiologic studies of community-dwelling men as well as in men with prostate cancer treated with androgen-deprivation therapy...

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