Endocrine Abstracts

Almost 70 years after Polycystic ovary syndrome (PCOS) was first described, its etiology remains unclear. In this preliminary study, gene expression in 3 normal and 3 PCOS ovaries was compared using differential display PCR to probe for genes with roles in the pathogenesis of PCOS.Over 1700 PCR products were detected with the 21 primer combinations used, each potentially derived from a different mRNA species. Pattern comparison of PCR products from norma...

The functions of dendritic cells (DCs) are tightly regulated such that protective immune responses are elicited and unwanted immune responses are prevented. 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) has been identified as a major factor that inhibits the differentiation and maturation of DCs, an effect dependent upon its binding to the nuclear vitamin D receptor (VDR). Physiological control of 1,25(OH)2D3 levels is dependent upon the enzyme 25-hydroxyvitamin-D3-1alpha-hydroxylase...

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...

Studies in vitro have highlighted the potent anti-cancer effects of the active form of vitamin D, 1,25-dihydroxyvitamin D3 (1,25D3). However, the in vivo application of 1,25D3 and its synthetic analogs remains problematical due to persistent hypercalcaemic side-effects. Recent studies have shown that it may be possible to overcome this in an autocrine fashion via extra-renal synthesis of 1,25D3. In particular, analysis of prostate and co...

A male patient treated with a thiazolidenedione (TZD) PPAR gamma agonist for Type 2 diabetes had a dramatic worsening of his thyroid eye disease (TED), which had been stable and inactive for more then two years. Expansion of the orbital fat seemed to be the underlying cause and we have investigated the effects of a PPAR gamma agonist (and subsequently an antagonist) on the adipogenesis of preadipocytes from 10 different patients, representing several fat depots, including TED ...

Ghrelin is a novel peptide that acts on the growth hormone segratagogue receptor in the pituitary and hypothalamus. It functions as a third physiological regulator of GH secretion along with GHRH and somatostatin. In addition to the action of ghrelin on the GH axis it appears to have a role in the determination of energy homeostasis. Whilst feeding suppresses ghrelin production and fasting stimulates ghrelin release the underlying mechanisms controlling this process remain unc...

Homeobox (HOX) genes encode proteins that are important in normal foetal development. Some of these genes such as HOXA10 also appear to be involved in haematopoiesis, tumour invasion and normal uterine function. HOXA10 is sensitively regulated by hormonal changes during the menstrual cycle. In addition, knockout mouse studies have suggested a role for HOXA10 in implantation but its precise mechanism of action remains unclear. To further investigate HOXA10 function in human rep...

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...

A 73 year old man was admitted to the hospital with a multi-factorial fall. He was otherwise asymptomatic. Past medical history included stage 3 chronic kidney disease (CKD), ulcerative colitis, epidermolysis bullosa and mild cognitive impairment. Examination was unremarkable apart from unilateral leg swelling and deep venous thrombosis was excluded. Investigations showed incidental undetectable magnesium level and severe hypocalcaemia. Potassium level was normal, 25-hydroxy-v...

Clinical Endocrinology, 2020, 92(1): 29–37 (DOI: https://onlinelibrary.wiley.com/doi/full/10.1111/cen.14119)...