Endocrine Abstracts

Inherited cancer syndromes with phaeochromocytoma as a component feature include von Hippel-Lindau syndrome (VHL, MIM 193300) and multiple endocrine neoplasia type 2 (MEN 2, MIM 171400), and less frequently, neurofibromatosis type 1. In addition germline mutations in the SDHB and SDHD (succinate dehydrogenase subunits B and D) genes cause susceptibility to phaeochromocytoma and/or head and neck paragangliomas (Reviewed in Maher ER Eng C. The pressure rises: update on the genet...

Klinefelter syndrome is an abnormality of sexual development which is usually characterised by the chromosome complement of 47,XXY, although occasionally patients may have multiple X or Y chromosomes, may be mosaic with 46, XY, 47,XXY or have an X-autosome translocation. We present the case of a 43 year old male patient with the phenotypic appearance of Klinefelter syndrome and primary infertility, who was found on karyotype analysis to have an hitherto undescribed inversion o...

Introduction: Non-syndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB, and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Design: Since consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inherita...