ESPE Abstracts

Background: Nonimmune neonatal goitrous hypothyroidism is a rare cause of neck mass and stridor. Retropharyngeal extension, described in 7% of cases of goitre spreading outside the thyroid bed, represents a diagnostic dilemma that requires a systematic multimodality imaging approach combined with hormonal and genetic analysis. We report the case of a one-week-old baby who presented with stridor and respiratory distress, without palpable neonatal goitre and whose biochemical pr...

Background: Maturity onset diabetes of the young (MODY) is a group of monogenic disorders classically presenting in adolescence or young adults before the age of 25 years. MODY is a rare cause of diabetes.Methods: In this study, a panel of 23 MODY genes was screened. The Human Gene Mutation Database (HGMD), Clinvar, dbSNP and Exac database used for known or new variants causes MODY. Classification of variants performed according to ACMG 2015 Guidelines. ...

Background: There are currently no specific growth charts for use in Nigerian children over the age of 5 years. Health workers rely on charts developed by the Center for Disease Control for children in USA (2000CDC US) or the UK 1990 growth charts for British children. It is unknown whether Nigerian children grow to the same height or at the same tempo as American or British children.Objective and hypotheses: To compare the growth of the Nigerian child t...

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

Introduction: The joint young adult diabetes (YAD) service at a specialist UK centre facilitates transition from paediatric to adult diabetes care for young people (YP) aged 16-25 years. Since 2018, quality improvement interventions have included focus groups with young people, joint paediatric and adult specialist nurse appointments and recruitment of a type 1 diabetes educator. We assess the impact of these interventions and changes imposed by the Covid-19 p...

Objective: Several studies have shown that sleep plays an important role as a modulator of metabolic homeostasis. Indeed, hundreds of studies have been published to examine the relationship between insufficient sleep, late bedtime and obesity. We have studied bedtime snack as another parameter. We suggested that it may be a risk factor for obesity. When we looked at the literature, we could not find any study about bedtime snack in childhood, but there are a few studies in adu...

Objective: Sedentary lifestyle obviously increases the risk of obesity. Reduced physical activity and increased screen-time seem to act as major determinants of the rapid increase of childhood obesity. Prevention of obesity is easier and more practical in comparison with treatment of obesity and its complications. Treatment of childhood obesity not only carries positive biopsychosocial consequences for the child but also serves as an important public health issue by preventing...

Introduction: Abdominal subcutaneous adipose tissue (SAT) is subdivided into two depots by the fascia of Scarpa. The deep SAT (dSAT) and superficial SAT (sSAT) are morphologically and metabolically distinct, with dSAT reportedly being more similar to visceral adipose tissue (VAT) in terms of elevating the risk for obesity-related complications. Conversely, sSAT appears to be more similar to lower-body SAT. The relationship between dSAT and metabolic disease ha...

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

Stüve-Wiedemann syndrome (SWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, neuromuscular abnormalities, dysautonomic symptoms, and respiratory and feeding distress usually resulting in early death.We report a girl, aged 6 years, with SWS. We measured bone mineral density in the lumbar spine, using dual-energy x-ray absorptiometry (DXA) with a densitometer (Hologic). The result is express...