Endocrine Abstracts

Iodine deficiency was common in the UK until the 1960s and was eradicated mainly through the adventitious increase in milk-iodine concentration. Iodine sufficiency was subsequently assumed in the UK, until a recent national study revealed mild iodine deficiency in adolescent girls, giving cause for concern. Iodine, as a component of the thyroid hormones, is crucial for brain development, and particularly during gestation. This study aimed to evaluate the relationship between i...

Introduction: Low-grade gliomas (LGGs) are the commonest benign childhood brain tumour and typically affect the optic tracts, chiasm and suprasellar diencephalon, thus potentially causing serious neuroendocrine deficits from tumour mass or treatment effects. In the absence of any major studies, we sought to comprehensively evaluate patient-, disease- and treatment-related risk factors for neuroendocrine morbidity in a large single-centre survivor cohort treated by varied, prim...

Introduction: Kisspeptin is the endogenous ligand for the G-protein coupled receptor-54 (GPR54 or KiSS1R). During human pregnancy, maternal levels of placental kisspeptin dramatically increase 7000-fold. The physiological significance of this is unknown. A potential target could be the fetal adrenal cortex (FAC), which undergoes rapid growth from 10 weeks gestation, predominantly of the inner fetal zone (FZ). The FZ expresses the steroidogenic enzymes needed for conversion of ...

Childhood hypothyroidism results in delayed skeletal maturation and impaired growth. Thyroid hormones act via thyroid hormone receptors α (TRα) and TRβ which are tempo-spatially regulated. In the skeleton, TRα is the predominant receptor, thus we hypothesise that the skeletal effects of hypothyroidism are mediated by TRα. To investigate this we assessed the response of wild type (wt), TRα knockout (TRα0/0) and TRβ knockout (TR...

Cardiovascular risk factors are more prevalent in south Asian (SA) adults compared to White Europeans (WE), although the reasons for this are not fully known. Vascular growth factors (VGFs) are increasingly recognised to have various roles in arterial development, function and remodelling. We hypothesised that ethnic differences in VGFs in early life contribute to the later differences in CV risk. We further hypothesised that arterial stiffness, as a measure of large artery st...

Introduction: Mutations affecting hypothalamic development in humans have been identified in genes that affect isolated domains of hypothalamic function leading to restricted phenotypes, such as obesity or hypogonadotrophic hypogonadism. We describe the first human cases of diabetes insipidus and combined pituitary hormone deficiency due to a mutation in a gene regulating hypothalamic development.Results: Six affected individuals from a highly consanguin...

Introduction: The use of haematopoietic stem cell transplantation (HSCT) as a curative therapy for life threatening immunodeficiency signalled a paradigm shift in clinical outcomes. However, a subset of patients may experience Thyroid Immune Reconstitution Inflammatory Syndrome (IRIS) following immune reconstitution. This is recognised in the adult population but has received little attention in the paediatric literature. We present, what we believe to be, the first case serie...

Introduction: Congenital central hypothyroidism occurs either as isolated TSH deficiency or in conjunction with other pituitary hormone deficits. Undetected central hypothyroidism is associated with developmental delay in children and adverse cardiometabolic sequelae in adults. Hitherto, mutations in the TRH receptor (TRHR) or TSHβ subunit (TSHB) genes are the only known causes of isolated TSH deficiency.Methods: Using whole exome and candidate gene...