ESPE Abstracts

Background: POMC deficiency is an extremely rare monogenetic obesity syndrome generally characterized by early onset hyperphagia, red hair and adrenal insufficiency. So far treatment of obesity and hyperphagia with MSH substitution failed, either due to ineffectiveness or side effects of available MC4R agonists.Objective and hypotheses: We hypothesized that the new MC-4R agonist setmelanotide might be a treatment option in POMC deficient patients.<p ...

Introduction: The leptin-melanocortin pathway plays a key-role in weight control. Pathogenic variants in the five major genes (LEP, LEPR, POMC, PCSK1, MC4R) are associated with early severe obesity. However, the specific associated phenotype with presence of mono-allelic variants and especially BMI trajectories are not well known.Objective: In order to identify specific profiles, we compared BMI trajectories during the f...

Background: In a Phase 3 trial in participants with obesity due to Bardet-Biedl syndrome (BBS) and Alström syndrome, setmelanotide was associated with significant reduction from baseline in body weight and hunger at Week 52 (primary endpoint), with outcomes driven by responses in individuals with BBS.Methods: In the same trial (NCT03746522), individuals with BBS or Alström syndrome were randomized and received ...

During morphogenesis, embryonic progenitors proliferate, differentiate and establish the shape of the future organs and tissues. In the mature organism, a certain degree of plasticity and potential for regeneration is retained as most organs maintain a population of adult stem cells sharing important similarities with embryonic progenitors; they are characterized by the ability to both self-renew and differentiate into the full range of the specialized cell types corresponding...

Rapidly accumulating epidemiologic and experimental evidence has indicated that insufficient sleep, such as commonly experienced in modern societies by all age groups, reduces insulin sensitivity and impairs glucose metabolism in healthy adults, and increases the risk of incident type 2 diabetes. Studies in type 1 or type 2 diabetic adults show a link between reduced sleep quality or duration and poor glyceamic control. While poor diabetes control may impair sleep due to noctu...

Background: Isolated persistence of Müllerian ducts in an otherwise normally virilised 46,XY newborn, a condition known as PMDS, is a disorder of sex development (DSD) due to a defect limited to AMH-dependent Müllerian duct regression.Objective and hypothesis: We report the case of a patient with PMDS and extremely low serum AMH in whom no mutations were detected in the AMH gene coding sequences. A single base deletion identified in th...

Background: Hypothalamic-pituitary (HP) deficiencies are frequent in childhood brain tumor survivors (CBTS) after cranial radiation. There is currently no consensus on the most optimal way to screen for HP dysfunction regarding diagnostic tests or time interval. It is not known whether MRI changes in time in the HP-region or in brain volume are predictive of HP dysfunction.Aim: To quantify changes in the HP-region and in brain volume on MRI in CBTS after...

Background: In paediatric patients with metabolic bone diseases, measurement of the concentrations of minerals including inorganic phosphate is often indicated, and hypophosphataemia is a clinically manageable biochemical disorder. The clinical interpretation of plasma or serum phosphate concentrations depends, to a certain extent, on the age- and gender-specific reference intervals applicable to the laboratory methods employed.Whereas h...

Background: Genital abnormalities are a source of concern and anxiety to parents and patients and in some cases, for the physicians who may have difficulty making pathological and eventually genetic diagnosis. They range from simple small penis and labial adhesions to the complex genital ambiguity and disorders of sex development.Hypothesis: To determine the genital abnormalities presenting in the Paediatric endocrinology unit of the University of Port H...

Background: Approximately one baby in 2000-3000 is born with congenital hypothyroidism (CHT). Newborn screening of CHT is conducted in different countries by the measurement of either thyroid stimulating hormone (TSH) of free thyroxine (FT4) or both. Whereas most Western countries screened CHT by using a blood spot collected on day 3 to 5 of life, some countries' programmes measure umbilical cord blood TSH or FT4 for the screening of CHT. In our maternity ...