ESPE Abstracts

Background: Studies of Primary Adrenal Insufficiency (PAI) from Africa are scanty while in Sudan, congenital adrenal hyperplasia (CAH) followed by Triple A syndrome are the commonest reported genetic etiologies in children. Diagnosis is challenging, especially in resource limited settings where presentation can mimic common childhood diseases and facilities for biochemical and genetic testing are restricted.Patients & Methods...

Objectives: Hyperphagia and severe obesity may result from impaired melanocortin-4 receptor (MC4R) signaling due to rare biallelic variants in POMC or PCSK1 (proopiomelanocortin [POMC] deficiency) or LEPR (leptin receptor [LEPR] deficiency), Bardet-Biedl syndrome (BBS) or acquired hypothalamic obesity (HO). Previously, setmelanotide in patients aged 2-17 years was well tolerated and improved weight-related measures and hunger severit...

Background: Neonatal over-nutrition (NON) can increase the propensity to become overweight and develop associated metabolic disturbances in later life. Moreover, some of these long-term effects are sexually dimorphic.Objective and hypotheses: We aimed to determine how NON affects body weight (BW), body composition and triglyceride (TG) and non-esterified fatty acids (NEFA) levels. We hypothesized that the effects would be both age and sex dependant.<...

Background: Glucocorticoids play an important role in the developing fetus, the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity in this population would be helpful, especially in the preterm ...

Background: We have proposed a simple and comprehensive scoring system to evaluate clinical features of differences/disorders of sexual development (DSD); however, its clinical evaluation has not been performed.Aim: To evaluate the association between this newly proposed DSD scoring system (DSD-SS) and assigned gender in patients with 45,X/46,XY mosaicism.Methods: DSD-SS involves e...

Introduction: Term newborns Small for Gestational Age (SGA) have an increased risk for minor neurological impairment at pre- and school age. The general movements (GMs) assessment, in particular at Fidgety (F+) age, has been increasingly used to predict neurological dysfunctions. Aim of our study was to evaluate, in a population of term newborn SGA (gestational age >37 weeks) the growth recovery, the presence of F+ at 3 months of age, and the neurological outcome at 2 year...

Introduction: Consensus guidelines (2021) state that a second dry blood spot (DBS) should be considered for newborn screening (NBS) in preterms (delayed TSH rise).Objective: To evaluate the diagnostic yield of an NBS strategy including a second DBS at 14 days in preterms.Material and Methods: Retrospective study of 2 cohorts. Cohort 1: live births <37 weeks of gestational age (G...

Introduction: Growth hormone (GH) is essential for stimulating growth and cell proliferation through its effects on metabolism, cartilage and bone growth. We have conducted initial studies to find new biomarkers for GH deficiency and early treatment response, focusing on miRNAs expressed in both sexes. We aimed at investigating sex-specific differences in circulating miRNAs at baseline and after 3 months on GH treatment in a cohort of prepubertal children with...

Background: Data on the course of puberty and pubertal growth in boys with Type 1 diabetes (T1D) are sparse.Objectives: To study the course of puberty, pubertal growth and final height in boys with T1D as well as possible factors affecting these.Methods: In this retrospective longitudinal study, 68 boys diagnosed with T1D between 1996-2009 who were pre-pubertal at diagnosis and had...

Background: Premature adrenarche (PA) has been associated to increased metabolic risk. Areas of controversy regarding associated co-morbidities are precocious pubarche, PCOS and lower birth weight, which may depend on ethnic background.Objective and hypotheses: To describe the risk of precocious thelarche (PT, <8 years), pubarche (PP, <8 years F, <9 years M) and gonadarche (PG, <9 years) in children with premature adrenarche.<p class=...