ESPE Abstracts

Bone age (BA) continues to be a valuable tool in assessing children’s growth potential. Children with normal variant short stature can be subdivided into idiopathic short stature (ISS) (with no delay in BA versus chronological age (CA) and constitutional delay (CDG) (with delayed BA versus CA. The response of these two groups to GH therapy remains controversial.Aim, patients, and methods: We studied linear growth, weight gain, skeletal maturation, a...

In normal children, mid parental height (MPH) is a useful tool in assessing children’s growth and in the prediction of their final adult height. However, this may not be true for short children, especially those with height SD (HtSDS) > - 1SDS compared to their mid-parental height SDS (MPHtSDS). The difference may indicate underlying pathology.Aim: To assess growth response (change in HtSDS) to GH therapy in short prepubertal ch...

Keywords: Basal ganglia calcifications, hypoparathyroidism, farh's diseaseIntroduction: Fahr syndrome is a rare anatomical-clinical entity, defined radiologically by the presence of bilateral, symmetrical, non-arteriosclerotic triatopallidodentate calcifications. Its diagnosis is radiological, and must be distinguished from Fahr's disease, which corresponds to the presence of calcifications without abnormalitie...

Introduction: Post-marketing surveillance registries provided extensive information about the safety and efficacy of daily growth hormone (GH) therapy during treatment. With the availability of novel long-acting GH (LAGH) therapies, it is important to determine whether the novel molecules or the different pattern of GH exposure lead to changes in the efficacy and safety profile. Therefore, new surveillance registries of LAGH are warranted.<p class="abstext...

Background: Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder, due to mutations in the leukemia inhibitory factor receptor (LIFR) gene. It is characterized by bowed-long bones, joint restrictions, dysautonomia, respiratory and feeding difficulties leading to death during infancy. In SWS survivors beyond 2 years of age, orthopedic problems are the main concern e.g. spinal deformations, osteoporosis and recurrent spontaneous fra...

An 11-year-old female presents with a 6-week history of double and blurred vision associated with headaches and neck swelling. Thyroid function tests demonstrated antibody negative hypothyroidism and connective tissue disorder screening was negative. The patient was commenced on thyroid hormone replacement (levothyroxine). 5 days later, she re-presented with strabismus and progressive diplopia. Intracranial imaging was performed to rule out space occupying masses. A diagnosis ...

Background: Congenital hypothyroidism (CHT) is one of the most common congenital endocrine disorders. The study will determine the incidence of CHT and describe demographic characteristics and developmental outcomes in children attending Gertrude’s children’s hospital, Nairobi Kenya over 5-year, period.Objective: To determine the incidence of congenital hypothyroidism, developmental outcome, and demographic c...

Background: There is little information on growth and fractures in boys with Duchenne Muscular Dystrophy (DMD).Objective & hypotheses: To determine the extent of growth & skeletal morbidity in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were analysed following categorisation into five age groups: A:<5 years (n, ...

Background: Collaborative project to review the phenotypic and genotypic data from children recruited to the UK wide deciphering developmental disorders (DDD) study.Objective and hypotheses: To report the frequency and range of disorders of sex development (DSD) phenotypes observed in DDD participants who have one or more associated ‘neurodevelopmental delay’ diagnostic human phenotype ontology (HPO) term.Method: Retrospe...

Objective and hypotheses: A retrospective review of bone morbidity in a contemporary cohort of boys with Duchenne muscular dystrophy (DMD) managed in a Scottish tertiary neuromuscular centre.Method: Clinical details and results of bone surveillance were obtained in 47 boys, aged 9 years (2–16). DXA bone mineral content (BMC) at total body (TB) and lumbar spine (LS) were adjusted for bone area. Fractures were classified based on radiological confirma...