Endocrine Abstracts

The granulation pattern of somatotroph adenoma is well known to be associated with differing clinical and biochemical characteristics and it has been shown that sparsely granulated tumors respond poorly to commonly used somatostatin analogs. We report a challenging case of acromegaly with a sparsely granulated tumor, resistant to multiple modalities of treatment given over several years and ultimately achieving biochemical control with pasireotide. A 26-year-old lady presented...

Aberrant pseudoexon inclusion is rarely recognised as a cause of human disease. Here we report two novel, compound heterozygous mutations in nicotinamide nucleotide transhydrogenase (NNT), one of which activates a pseudoexon, as the cause of familial glucocorticoid deficiency in two siblings. Whole-exome sequencing identified a single novel, heterozygous variant (R71X) in both affected individuals. Follow-up cDNA analysis identified the pseudoexon inclusion (p.P998_D9...

Background: Women with polycystic ovary syndrome (PCOS) may have increased cardiovascular (CV) risk but the mechanisms are unclear. Microparticles (MP), small circulating vesicles released from platelets, monocytes and endothelial cells, are elevated in patients with CV disease, and may increase CV risk through altered cell content and/or increased surface exposure of procoagulant phosphatidylserine (PS).Aims: To compare MP characteristics between women ...

Background: About a half of all children with a clinical diagnosis of Silver-Russell syndrome (SRS) have a detectable molecular genetic abnormality (maternal uniparental disomy of chromosome 7 or hypomethylation of H19). The selection of children for molecular genetic testing can be difficult for non-specialists because of the broad phenotypic spectrum of SRS and the tendency of the facial features to mitigate during late childhood. Several clinical scoring systems for SRS hav...

Introduction: Generously supported by IPSEN)-->Measurement of salivary cortisol is a simple, convenient, accurate and reproducible technique with potential value during the diagnosis/management of hypercortisolism. Current analysis evaluates changes in late-night salivary cortisol (LNSC) during pasireotide treatment in patients with Cushing’s disease (CD).Methods: A 12 m, Phase III study enrolled 162 adult...

At least 90% of human ovarian cancers originate in the OSE. Most studies indicate that EOC is oestrogen responsive. Paradoxically, ovarian cancer generally occurs after the menopause, which raises the question if oestrogen is involved, where does it come from? We hypothesise that the high circulating concentrations of conjugated (inactive) oestrogens in post-menopausal women are substrates for formation of active oestrogen in the OSE through the hydrolytic enzyme activity of S...

CDGP is a common growth disorder, often dominantly inherited. Genetic association is thus very likely. There are many possible candidates but none are yet linked to CDGP. We assessed the possible contribution of L, LR genes (mutations in each cause very delayed or absent puberty), CART (mediates the effect of L on GnRH pulse generation), and GPR54 (a hypothalamic G-protein coupled receptor, which is mutated in familial hypogonadotrophic hypogonadism) genes.<p class="abstex...

In childhood an appropriate response to GH treatment is achieved by titration of growth response against dose administered, with careful observation for side-effects. In order to evaluate the potential use of IGF monitoring in children treated with GH, a cross-sectional study has been carried in 215 children and adolescents (134 with GH deficiency, 54 with Turner syndrome and 29 with non-GHD growth disorders) treated with GH for 0.2 to 13.7 years.IGF-I ...

Background: Low and high birth weight (BW) has been linked to the increased risk of infant mortality, obesity, diabetes, and cardiovascular diseases. Metabolic biomarkers, glucose, lipids and insulin in human umbilical cord blood could potentially reflect the new-born metabolic status. This study aims to assess the concentration of glucose, lipids and insulin in cord blood, and to investigate the association between these metabolic parameters and BW.Meth...

Background: Radioactive iodine therapy (RAI) is established as a safe and effective treatment for adults with Grave’s disease. As thyrotoxicosis in children is rare, it is difficult to obtain high quality evidence about the safety and efficacy of RAI. We present data from our centre between 2007 and 2017.Methods: 20 paediatric patients with hyperthyroidism (16F), median age 15.7 years (range 10.8–19.3) had RAI in our centre either one or two do...