Endocrine Abstracts

Introduction: We describe a girl presenting with abnormal facial features, growth restriction with insufficient growth hormone production and learning difficulties. She has an unbalanced translocation between 17p13.3 and 10q26.13 causing a microdeletion at 17p13.3 and trisomy of 10q26.Case report: At presentation at 7½ years of age, her height was 4 cm below the 0.4th centile with a growth velocity of 1.6 cm/year; weight was on 0.4th centile. Invest...

Background: Hypothalamic injury and impaired melanocortin-4 receptor (MC4R) pathway signaling, often a result of surgery or radiation for a benign tumor, may lead to hypothalamic obesity (HO). After injury, sudden weight gain and appetite changes unresponsive to existing therapies develop. Setmelanotide, an MC4R agonist, is approved for chronic weight management in patients with certain MC4R pathway–associated diseases. We report interim results of a Phase 2 study of setm...

Background: Hypothalamic obesity (HO) is an acquired form of severe obesity that can occur following surgical resection of or radiotherapy for brain tumors and is often unresponsive to lifestyle modifications or traditional obesity pharmacotherapies. Here, we report weight- and body composition–related findings from a Phase 2 trial of setmelanotide, a melanocortin-4 receptor agonist, in patients with HO.Methods: A Phase 2, open-label, 16-week trial ...

Objective: To report hunger-related results from a Phase 2 trial of setmelanotide in patients with hypothalamic obesity (HO).Methods: A Phase 2, open-label, 16-week trial of setmelanotide in patients aged ≥6 to ≤ 40 years with body mass index (BMI) ≥95th percentile (aged <18 years) or ≥35 kg/m2 (aged ≥18 years) and HO caused by hypothalamic damage secondary to brain tumor, surgical resection, and/or chemothera...

Background: Hypothalamic obesity (HO) is an acquired form of severe obesity characterized by rapid and excessive weight gain resulting from insult to the hypothalamus—primarily caused by tumor invasion, resection, or radiotherapy—that can impair melanocortin-4 receptor (MC4R) pathway signaling. Treatment with setmelanotide, an MC4R agonist, resulted in weight and hunger reduction at 16 weeks in a Phase 2 trial of patients with HO. Here, we report changes in weight-re...

In pregnant women with thyroid diseases an increased amount of LT4 may be required for the correction of hypothyroidism or treatment of nodular goiter. Aim of this study was to assess the amount of the variations of LT4 requirement in pregnant women with thyroid diseases. To address this issue, we retrospectively evaluated a cohort of 107 women treated with LT4 divided in two groups: 42 euthyroid (E) (affected by nodular goiter (NG) treated with LT4 suppressive therapy) and 65...

Lactate is a metabolite that activates the G-protein coupled receptor, Hydroxycarboxylic acid Receptor 1 (HCAR1) to regulate physiological processes such as lipolysis, cancer cell survival, and neuroprotection. Lactate exists in two forms, L+ and D-, with the L isoform predominant in the human body. Interestingly, both isoforms are only found together in the gastrointestinal tract. L-lactate is synthesised as a by-product of anaerobic respiration, whereas D-lactate, is a produ...

The Miller-McKusick-Malvaux (3M) syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of skeletal anomalies, facial dysmorphism and normal intelligence. Mutations in the CUL7 gene (6p21.1) are most often responsible for 3M syndrome (67% of cases). Other causal mutations include those in the OBSL1 gene (2q35), in 28% of cases, or the CCDC8 gene (19q13.33), in ...

Case history: A 65 year old unresponsive female, admitted as a stroke call, was found to have myxoedema crisis with admission TSH level of >100 mIU/l and T4 of 0.7 pmol/l. She was known hypothyroid with poor medication compliance. ITU admission for intubation and ventilation, CVVH (renal filtration) and vasopressors was required. Total length of ITU stay was 62 days, prolonged by cardiac complications during correction. There was no known cardiac history. On Day 7 of admission...

There are many current uncertainties surrounding the definition and treatment of vitamin D deficiency.This presentation will review the synthesis and metabolism of vitamin D and its multisystem effects.How should we define significant vitamin D deficiency? Should threshold be 30, 50 or 75 nmol/l?How should vitamin D deficiency be treated? What is a safe upper limit of serum vitamin D, and are there adverse ef...