Endocrine Abstracts

Professor K ChatterjeeKrishna Chatterjee is Professor of Endocrinology at the University of Cambridge, and a Wellcome Trust Senior Investigator. His research interests in genetic and molecular endocrinology include Disorders of Thyroid Hormone Action. He co-directs a national referral laboratory for unusual and discordant thyroid function tests in Cambridge....

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Disorders of thyroid hormone action are classified broadly, to encompass conditions with defective cellular uptake, metabolism or nuclear action of thyroid hormones. We describe recent insights into two rare disorders of thyroid hormone action. Impaired conversion of T4 to T3 enables recognition of a multisystem disorder due to mutations in SECISBP2 – a factor directing synthesis of 25 different human, selenocysteine-containing proteins that...

The actions of thyroid hormones (TH) are mediated by receptors (TRα1, TRβ1, TRβ2), encoded by separate genes (THRA, THRB), with differing tissue distribution. TRβ2 mediates negative feedback within the hypothalamic-pituitary axis, with TRβ1 being expressed in the liver & kidney; TRα1 predominates in the myocardium and skeletal muscle.Resistance to Thyroid Hormone, usually due to heterozygous TRβ mutations (...

Disorders of thyroid hormone action are classified broadly, to encompass conditions with defective cellular uptake, metabolism or nuclear action of thyroid hormones. Mutations in SECISBP2 cause a multisystem disorder of defective selenoprotein synthesis, with features due to tissue-specific selenoprotein deficiencies (e.g. male infertility, muscular dystrophy), raised cellular reactive oxygen species due to lack of antioxidant selenoenzymes (e.g. photosensitivity, increased ad...

Thyroid hormones act via receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. We describe two unrelated cases of Resistance to Thyroid Hormone mediated by defective TRα1. Proband one (P1 female, age 6yrs) presented with lower segmental growth retardation (height < 10th centile), skeletal dysplasia (delayed bone age, femoral epiphyseal dysgenesis, delayed fusion of cranial sutures) and severe constipation. Proband two (P2, fem...

Introduction: In this presentation, data on 67 hyperthyroid patients , aged 5 to 18 years, (53 female) who presented to an endocrine referral centre in Calcutta, India, between 1996 and 2010 are analysed.Material & Methods: All patients had a full clinical examination. Free T3, Free T4 and TSH were measured by a chemiluminescence assay and thyroiditis was excluded. Only 21 patients (32 %) were 12 years or younger. Estimated goitre size was 20 g or mo...

Many endocrine disorders exhibit a distinctive biochemical or clinical phenotype and I will illustrate how our research has provided novel genetic and physiological insights into hormone action in the human context. Isolated deficiency of follicle stimulating hormone (FSH), due to loss-of-function mutations in the FSHβ subunit gene, presents with primary amenorrhoea or male infertility. In females, ovarian follicles are preserved and treatment with exogenous FSH induces c...

We have screened the human PPARγ gene in a cohort of subjects with severe insulin resistance and identified defects in nine unrelated families. Heterozygous mutations in affected individuals cosegregate with a phenotype which includes stereotyped (gluteal, limb) partial lipodystrophy, early-onset hypertension, dyslipidaemia and hepatic steatosis. Pathogenesis of the phenotype involves abnormal metabolism of dietary fat intake, with elevated circulating lipids and fat oxid...

Described here is a series of 3 patients with psychiatric disorders and 4 patients with movement disorders associated with primary hypoparathyroidism. Patients of ages 18 through 55 years and were seen 1998–2004 in a general hospital. Institutional Ethical Committee approval was obtained for the study.On presentation, all patients had fasting plasma tested for calcium, magnesium, phosphorus, albumin and intact PTH. All had CT scans of the head. All ...