ESPE Abstracts

Introduction: Carbohydrate restriction (CH-R) in adolescents with obesity results in faster BMI reduction and glucose metabolism improvement than diets with normal carbohydrate proportion, without a higher weight regain in the short term. However, data on weight and metabolic trajectories of these patients after a more prolonged follow-up are sparse.Objectives: To evaluate metabolic and body composition evolution during ...

Introduction: Recent studies point to the existence of androgen-responsive non-coding (nc) RNAs in peripheral blood mononuclear cells (PBMC) RNA.Aim: To quantify the androgen-responsive gene expression of SNORD5 and RNY5 and investigate their relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: 19 bo...

Background: Achieving adequate hypoglycaemia during the insulin tolerance test (ITT) is important but excessive hypoglycaemia is undesirable. We aim to evaluate factor affecting insulin sensitivity and hypoglycaemia during ITT.Patients and method: 106 children (76 males) who had an ITT (Actrapid 0.1 units/kg) performed between 2009–2013 for evaluation of short stature, poor growth or re-assessment after completion of growth following rhGH therapy. P...

Introduction: Obesity is a multifactorial disease resulting from an interplay between genetics and the environment. Metabolic, nutritional, psychosocial, and lifestyle factors participate, promoting various degrees of overweight or obesity. Pediatric obesity increases after infancy and is higher in early adulthood, showing a heritability of up to 85%. Genetic variants associated with BMI in children can exert their effects by affecting eating behavior, as is t...

Background: GL1I2 encodes a zinc-finger transcription factor expressed in the developing hypothalamus and in Rathke's pouch, the embryonic precursor of the pituitary gland. Pathogenic GL1I2 variants have been implicated in the etiology of the broad clinical spectrum of congenital hypopituitarism (CHY): holoprosencephaly, midline facial abnormalities, Culler-Jones syndrome, combined pituitary hormone-deficiency (CPHD) and isolated GH-defi...

Background: XLH is a rare, genetic, life-long disease caused by PHEX pathogenic variants. It is associated with progressive accumulation of musculoskeletal features and symptoms that evolve across the patient’s lifetime if untreated. Although the disease is well characterised in children and adults, there are limited data describing the health outcomes and experiences of adolescents, particularly at end of skeletal growth (EOSG), a crucial phase during t...

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

Introduction: The degree of consistency between the findings from next generation sequencing (NGS) and detailed endocrine assessment is unclear in boys with XY DSD.Objectives: Examine the range of endocrine and molecular genetic variation in boys undergoing evaluation for XYDSD.Methods: Boys with XYDSD who were evaluated in Glasgow from 2016 to 2018 were included. Sequence variants...

Background: The first three children reported to have biallelic mutations in RNPC3 presented with growth hormone (GH) deficiency and pituitary hypoplasia (MIM#618860). RNPC3 codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. The underlying mechanism causing GH deficiency in these patients is not fully understood. Moreover, whether the association of further ho...

Introduction: Transient hyperinsulinism is described in neonates with stress factors (intrauterine growth restriction (IUGR), large for gestational age (LGA), perinatal asphyxia, infants of diabetic mother etc.). Recognition and early treatment is prioritary to avoid neurological morbidity related with recurrent hypoglycemia.Objective: Describe the incidence of transient hyperinsulinism. Clinical charac...