ESPE Abstracts

Background: Otological problems in Turner syndrome (TS) are notoriously common and troublesome, often requiring intervention with adeno-tonsillectomy, insertion of ventilation tubes and occasionally resulting in serious disease such as cholesteatoma.Survey of otological problems in the West of Scotland: A case note review of 174 girls attending the Turner clinic in Glasgow, Scotland from 1989–2015 found that of 155 patients in whom data were availab...

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: Pycnodysostosis is a very rare autosomal recessive skeletal dysplasia caused by cathepsin K deficiency. It is characterized by extreme short stature resulting in an adult height in males typically <150 cm and in females <134 cm. Bone-fragility and frequent fractures are present. There are few case-reports on the effects of GH treatment.Objective: To evaluate the effect and safety of GH in 6 patients wit...

Background: CNS tumours are the most frequent solid tumours in children. In pediatric gliomas, IGF1R nuclear localization was significantly associated with both high grade tumours and increased risk of death and contributed to the aggressive phenotype of glioblastoma by increasing motility and metabolism of tumour cells rather than increasing its proliferation. For children chemotherapy after surgical resection is the mainstay of therapy. However, the best reg...

Background and Aim: Gliomas are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. In a previous work we have reported the quantitation of some components of the IGFs system in SNC pediatric tumours (IGF-1, IGF-2, IGF-1R, IR), being IGF-2 expression the most variable among all the genes studied.Our aim w...

Data from urinary steroid metabolomics approach gave evidence that the ‘backdoor’ pathway might act as a source of androgen synthesis in CAH. Although the prenatal role of this pathway in CAH is unknown, the backdoor pathway could be involved in fetal androgen metabolism and could contribute to genital virilisation. The traditional concept of androgen synthesis in CAH postulates that androstenedione acts as a precursor of testosterone and dihydrotestosterone, and tha...

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

Objective: There have been very few studies, with contradictory results, on the serum trace elements in children and adolescents presenting with diabetic ketosis and diabetic ketoacidosis due to type-1 diabetes mellitus. The objective of this longitudinal controlled study was to determine serum trace element status including selenium (Se), zinc (Zn), copper (Cu), manganese (Mn), chrome (Cr), and cobalt (Co) in type-1 diabetic children and adolescents presenting with diabetic k...

Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form. Studies have described pituitary abnormalities in up to 40%. We aimed to determine the use of baseline endocrine investigations and MRI brain in assessing endocrine dysfunction.Method: Retrospective casenote ...