Endocrine Abstracts

In 2006, responding to the Government White Paper, ‘Our future, our inheritance’, a project commenced promoting genetics in mainstream medicine.By 2008, the original project framework has evolved to address logistical constraints, patient preference and cost effectiveness, offering a streamlined service for clients with inherited endocrine disorders. Recognised patient pathways and a dedicated endocrine genetic clinical nurse specialist (EGCNS)...

Medullary thyroid cancer (MTC) is rare and mainly sporadic. About ≤25% of cases are inherited from a Ret protooncogene (RET) mutation. >90% of positive mutations develop MTC, either as familial (FMTC), or as part of MEN2. Early detection and treatment of MTC with total thyroidectomy improves prognosis.In 2006, as part of a project to deliver genetics into mainstream medicine, a multidisciplinary clinic (MDC) comprising a specialist thyroid surg...

Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive disorders. About 5–8% of cases are caused by the deficiency of steroid 11β-hydroxylase (CYP11B1) due to mutations in CYP11B1 gene. CYP11B1-inactivating mutations can be found without particular hot-spot spread over the entire gene. A good phenotype-genotype correlation exists for the patients suffering from 11β-hydroxylase deficiency (11OHD). The prediction of diseas...