Searchable abstracts of presentations at key conferences in endocrinology

ea0009p95 | Endocrine tumours and neoplasia | BES2005

Diagnostic mutation testing in multiple endocrine neoplasia type 1 (MEN1): Support for the current referral criteria

Vaidya B , Owen M , Hattersley A , Ellard S

Background: Multiple Endocrine Neoplasia (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreas and pituitary. Recent consensus guidelines have recommended screening of MEN1 gene mutations in patients who have at least two of the parathyroid hyperplasia, pancreatic endocrine tumour or pituitary adenoma, or are suspicious of having MEN1 (multiple parathyroid tumours before age 30, recurrent hyperparathyroidism, gastrinoma or multiple isl...

ea0005p258 | Thyroid | BES2003

The W546X mutation of the thyrotropin receptor gene: Potential major contributor to thyroid dysfunction in a caucasian population

Jordan N , Willliams N , Gregory J , Evans C , Owen M , Ludgate M

Congenital hypothyroidism (CH) occurs in approximately 1 in 3000 individuals. Rapid detection and treatment by neonatal screening and administration of T4, is essential to prevent severe mental retardation and impaired growth.We report on two Welsh siblings, detected by neonatal screening, which had normal sized and placed glands but negative isotope uptake. Mutations resulting in CH are known to occur in 11 known genes, given the clinical presentation, we investigated the...

ea0003p295 | Thyroid | BES2002

Molecular characterisation of congenital hypothyroidism

Jordan N , Gregory J , Evans C , Williams N , Owen M , Ludgate M

Congenital hypothyroidism (CH) occurs in approximately 1 in 3000 individuals. Rapid detection by neonatal screening and T4 administration is essential to prevent severe mental retardation and impaired growth. About one third of CH is due to mutations in known genes including the thyrotropin receptor (TSHR).Two Welsh male siblings with CH were detected, both had normally sized and located thyroid glands, no iodide uptake and were negative for thyroid bloc...