Endocrine Abstracts

Anti-Mullerian hormone (AMH) has an important regulatory role both in early folliculogenesis (inhibiting the recruitment of follicles from the primordial pool into the growing phase) and at the antral stage (where it inhibits the action of FSH). In the mouse, AMH action appears to be mediated by a heterodimeric receptor complex comprising a type I receptor and the specific AMH receptor AMHRII, which is essential for AMH signalling in the murine ovary. Post-receptor signalling ...

Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder, affecting 5–10% of women of reproductive age. The underlying pathogenesis is complex and incompletely understood. There is evidence that gonadotropin and gonadotropin receptor action play a role in the pathogenesis of PCOS with genome wide association studies in PCOS also implicating altered gonadotropin action in the aetiology of PCOS. Furthermore, our recent studies have demonstrated that gonad...

Introduction: Several previous case reports have described the use of the calcium-blocker Nifedipine for the treatment of hyperinsulinaemic hypoglycaemia (HH). These cases are a collection of transient/permanent forms of HH, with known/unknown genetics, where Nifedipine has been used either as monotherapy or in combination with other medications. There have been no previous reports of any systematic trial of Nifedipine use in patients with HH due to mutations in the ABCC8<...

Background: GH insensitivity (GHI) presents with growth failure, IGF-1 deficiency and normal/elevated GH (basal >5 μg/l and/or peak >10 μg/l). GHI encompasses a spectrum of clinical and biochemical abnormalities. Associations between phenotypic characteristics and genetic defects remain obscure.Objective: Identify phenotypic predictors of underlying genetic defects in GHI.Methods: In total of 102 children (62M) me...

Currently in the UK children and young people with diabetes receive variable provision of care and support in educational settings. There are concerns that this impacts on the young person’s glycaemic control, their quality of life, and their educational performance and outcome. Whilst most paediatric diabetes teams provide training for school staff, it may take several days, even weeks, after diagnosis before a diabetes educator is able to attend the school to provide ed...

Introduction: Non-alcoholic fatty liver disease (NAFLD) has become the most common form of chronic liver disease in children in association with the increasing prevalence of obesity. The underlying mechanisms are incompletely understood, however the accumulation of cholesterol and fatty acid lipotoxins plays an important role. 5-hydroxymethylcytosine (5hmC) is an epigenetic modification generated from 5-methylcytosine (5mC) by the Ten-eleven translocase isoenzymes (Tets). Tet ...

Disparities in the quality of care for patients with type 1 diabetes (T1D) undergoing transition from children’s to adult services are well recognised. Poor planning and ill-defined care pathways promote patient disengagement with many becoming ‘lost’ to specialist follow-up for years. This study sought to obtain the views of young people’s experiences of transition to identify perceived barriers to an effective and rewarding transition experience. A qualit...

The luteinising hormone/chorionic gonadotropin receptor (LHCGR) plays an essential role in ovarian follicular function, mediating the action of LH on theca cell steroidogenesis and, in the preovulatory follicle, on granulosa cell (GC) steroid production and the ovulatory cascade. Following ovulation, LH (and CG) are responsible for maintenance and function of the corpus luteum. Arrested antral follicle development in PCOS is characterised by premature responsiveness of GCs to ...

IntroductionAdrenocortical Carcinoma (ACC) is a rare aggressive cancer which carries a poor prognosis. Adjuvant mitotane improves survival but is limited by poor response rates and resistance following tumour recurrence. Mitotane’s efficacy has been attributed to intracellular accumulation of toxic free cholesterol (FC) predominantly through inhibition of cholesterol storage through SOAT1. Yet SOAT1 specific inhibitors demonstrate inferior efficacy ...

Section 1: Case history: We present the case of a 21-year-old lady known to harbour a homozygous inactivating mutation of the calcium sensing receptor (CaSR) which led to uncontrolled hypercalcaemia in infancy, necessitating emergency total parathyroidectomy. The CaSR plays an important role in calcium homeostasis. Inactivating mutations result in a higher calcium “set-point” and various degrees of hypercalcaemia based on the severity of functional impairment. In the...