Endocrine Abstracts

Clinical case: An incidental right sided pelvic mass measuring 6 cm×7 cm was found in a 35 year-old nulliparous lady during investigations for secondary infertility. This mass was hard, irregular and white in appearance and biopsy confirmed a carcinoid tumour with a low Ki 67 index of 2.7%. She had no symptoms of flushing, diarrhoea or local discomfort. Endocrine screen showed a non-secretory tumour with normal fasting gut hormones and negative urinary 5H1AAs. Other tumou...

Recently, linkage between chromosome 1q23 and rheumatoid arthritis within the Japanese population has been narrowed down to association of four single nucleotide polymorphisms (SNPs), fcrl3_3, fcrl3_4, fcrl3_5 and fcrl3_6, within FCRL3, a known regulator of B cell signalling. Of these four SNPs, fcrl3_3 was shown to disrupt FCRL3 expression on B cells, suggesting a potential etiological role. Association of fcrl3_3 was also replicated in a Japanese Graves’ disease ...

Objective: To construct rat congenic strains to confirm and narrow down a region on rat chromosome 2 previously implicated in blood pressure regulation. To determine expression profiles and identify differentially expressed genes between congenic strain and respective parental strain using microarray technology.Design and Methods: Total RNA was prepared from whole kidney homogenates from 2x parental SHRSPGla and 2x SP.WKYGla2a congenic rats. Expression ...

Pseudoacromegaly or acromegaloidism is used to describe cases where acromegaly-related physical appearance can be observed without any abnormality in the growth hormone (GH) axis. Acromegalic features, in particular coarse facies, together with hypertrichosis, are typical manifestations of one of the pseudoacromegaly conditions: hypertrichosis acromegaloid facial features (HAFF) syndrome. This condition phenotypically overlaps with Cantu syndrome and acromegaloid facial appear...

Pseudoacromegaly or acromegaloidism is used to describe cases where acromegaly-related physical appearance can be observed without any abnormality in the growth hormone (GH) axis. Acromegalic features, in particular coarse facies, together with hypertrichosis, are typical manifestations of one of the pseudoacromegaly conditions: hypertrichosis acromegaloid facial features (HAFF) syndrome. This condition phenotypically overlaps with Cantu syndrome and acromegaloid facial appear...

Graves’ disease (GD) and Hashimotos’ thyroiditis (HT), two of the most common autoimmune thyroid diseases (AITD), are caused by both shared and disease specific genetic determinants. In females one copy of the X chromosome is randomly inactivated, and although inactivation should occur with a parent of origin ratio of 50:50, skewed X chromosome inactivation (XCI) can occur, whereby >80% of a specific copy of the X chromosome is inactivated. Increased skewed XCI i...

Graves’ disease (GD) affects >2% of the population and occurs more frequently in females than males. Several hypotheses have been put forward to explain the female preponderance including increased immune responsiveness, gonadal steriods, sex chromosome susceptibility loci and, more recently, skewed X inactivation (XCI). XCI occurs in females causing one of their X chromosomes to be randomly inactivated enabling dosage compensation with males who only have one copy of...

The cohort comprised 2296 patients with Graves’ disease (GD) (1920 females, 376 males) and 361 with Hashimoto’s thyroiditis (HT) (313 females, 48 males) recruited using standard diagnostic criteria for investigation of genetic susceptibility to AITD. We investigated variation in disease phenotype with age and gender, examining factors including biochemical severity, presence of goitre and presence of thyroid eye disease (TED) classified by NOSPECS score.<p class=...

Autoimmune thyroid diseases (AITD), Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) cluster in families. We investigated whether having a family history (FH) of AITD altered age of diagnosis. The cohort comprised 2296 GD (1920F,376M) and 361 HT (313F,48M) recruited according to standard diagnostic criteria. We compared age at diagnosis of GD or HT in those with or without a FH of overt hyper- or hypothyroidism (ascertained using a standardised questionnaire).</...

The association of autoimmune thyroid diseases (AITD) with other autoimmune disorders is well documented. Familial prevalence of thyroid dysfunction and other autoimmune diseases was examined in our cohort of 2296 with Graves’ disease (GD) (1920 females, 376 males) and 361 with Hashimoto’s thyroiditis (HT) (313 females, 48 males), probands being recruited using standard diagnostic criteria. FH was ascertained using a standardised structured questionnaire.<p class...