Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is a group a rare autosomal recessive disorders characterised by a deficiency on one of the enzymes necessary for cortisol biosynthesis. More than 90% of CAH is caused by mutations or deletions in cytochrome P450 21-hydroxylase gene. Impaired glucocorticoid synthesis results in chronic elevation of ACTH causing adrenal hyperplasia and accumulation of steroid precursors such as 17-hydroxyprogesterone (17-HOP). The main goal in CAH managemeng...

The transplacental passage of thyroid hormones (TH) from the maternal to fetal circulations is important for normal fetal development, particularly the fetal central nervous system. This is particularly so before the onset of endogenous fetal TH production from the second trimester of pregnancy. The human hemochorial placenta regulates the quantity of TH passing through and the complement of the different forms of TH to ensure requisite levels are present in the fetus for each...

Background: The melanocortin 2 receptor (MC2R)/melanocortin 2 receptor accessory protein (MRAP) are critical components of the hypothalamo-pituitary-adrenal axis (HPA). MRAP2, homologue of MRAP, can also regulate the MC2R in vitro, however, the physiological significance of this is unclear. We studied the expression of the MRAPs and MC2R in a well-defined rat model of endotoxin induced septic shock. These animals have been shown to have higher ACTH and corticosterone le...

Background: Thyroid hormones (TH) are vital for fetal and placental development. TH transporters including monocarboxylate transporters 8 and 10 (MCT8, MCT10), organic anion transporters (OATP1A2, OATP4A1) and system-L amino acid transporters (LAT1, LAT2) are expressed in human placenta from 6 weeks of gestation. All of these TH transporters have been localized to the human syncytiotrophoblast layer of placental villi, which is in direct contact with maternal bl...

Background and aims: The melanocortin-2-receptor accessory protein (MRAP) is essential for melanocortin-2-receptor (MC2R) function through receptor trafficking and signalling, enabling adrenal glucocorticoid synthesis in response to ACTH stimulation. Disabling mutations of MRAP result in life-threatening glucocorticoid deficiency, known as familial glucocorticoid deficiency type 2. MRAP has a single paralogue in the human genome, MRAP2. In vitro MRAP2 has a similar acti...

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant condition that is rare in childhood. MEN2 is sub-classified into three categories that all include familial medullary thyroid carcinoma (MTC). Familial MTC has no other associated tumours. MEN2A is characterised by MTC, phaeochromocytoma and parathyroid tumours and MEN2B consists of MTC, phaeochromocytoma, ganglioneuromatosis and usually a Marfanoid habitus. The identification of RET as the causative gene has ...

The vulnerability of early central nervous system (CNS) development to thyroid hormone (TH) deprivation has been highlighted by studies showing an association between maternal hypothyroxinemia during the first trimester and long-term neurodevelopmental delay in the offspring. The molecular mechanisms underlying this observation are, however, poorly understood. It is known that the actions of triiodothyronine (T3), the active TH metabolite, are primarily mediated by TRs, which ...

The discovery of the fundamental involvement of receptor activator for nuclear factor-KB ligand (RANKL) in osteoclast (OC) formation, has enabled the routine generation of human OCs in vitro from human peripheral blood mononuclear cells (PBMCs). Beta C-terminal telopeptide (beta-CTx) is a specific resorption marker for degradation of bone type I collagen by OCs. We have evaluated the correlation between beta-CTx released from dentine wafers on which OC were c...

Objective: Although the importance of islet α-cell dysfunction in the pathogenesis of type 2 diabetes has been reappraised, data on whether increase or decrease of glucagon relative to insulin is related with glucose metabolism parameters or metabolic diseases such as nonalcoholic fatty liver disease(NAFLD) in clinical settings are very limited. Therefore, we investigated the association between glucagon-to-insulin ratio(G/I ratio) and presence of NAFLD and metabolic para...

Objectives: To report outcomes comparing RYGB (Roux-en-Y gastric bypass) and OAGB (one anastomosis gastric bypass) on patients with obesity. To further investigate the efficacy of OAGB, given that there is significant interest in OAGB as it has reported reduced operating time, better weight loss and increased remission of obesity-related comorbidities. However, there are concerns over potentially serious postoperative complications causing limited uptake.<p class="abstext"...