ESPE Abstracts

Aim: To identify the distinctive features of GH Deficiency (GHD) and to assess the response to GH treatment (rhGH) in children with Septo-Optic-dysplasia (SOD) and Multiple Pituitary Hormone Deficiencies (MPHD).Methods: Retrospective longitudinal single centre study of children with SOD (n:171) and MPHD (n:53). GHD was diagnosed in patients with growth failure by an insufficient GH response (≤6.7 μg/l) to provocation (Insulin Induced Hypoglyca...

Background: Children with septo-optic dysplasia (SOD) and related disorders can present with either hypogonadotropic hypogonadism or precocious puberty. This phenotypic variability remains unexplained.Objective and hypotheses: To compare pubertal characteristics of SOD with isolated congenital hypopituitarism (CPHD) and optic nerve hypoplasia (ONH).Method: Retrospective longitudinal data collection from 259 patients with: SOD (...

Background: i.v. Pamidronate (PAM) has been used in the treatment of osteogenesis imperfecta (OI) and is known to increase bone mineral density (BMD) and reduce the incidence of fractures. However an attractive alternative is the more potent i.v. Zoledronic acid (ZOL).Objective and hypotheses: To determine the clinical efficacy of i.v. PAM vs ZOL in children with mild to moderate OI and compare the cost benefits of the two drugs.Me...

Background: Throughout 2020 telemedicine was rapidly deployed across health services and, during the COVID-19 pandemic, replaced many face-to-face (FTF) medical consultations. Children and young people (CYP) with diabetes present a unique opportunity for this type of consultation, due to the ability to interpret and share glucose data via other platforms. This study describes both CYP and parent experience of a new telemedicine service for CYP with diabetes.</...

Methods: A retrospective analysis of children with T1DM attending the Paediatric-diabetes service in an inner-city hospital. We included CYPD with paired values of hospital-measured BMI and HbA1C during 2 periods covering pre and post-lockdown (January-June 2020 versus November2020-April 2021). Children without paired values were excluded. HbA1C is expressed in DCCT% units. BMI calculated in absolute values, given the short study period....

Background: Turner Syndrome (TS) is commonly complicated by otological problems, of which middle ear infections, conductive and sensorineural hearing losses are most frequent. Middle ear infection and hearing loss, isolated or in combination, have putative roles in balance disturbance and may be related to the increased fracture risk exhibited in TS in adulthood. Our aim was to both establish the prevalence of balance problems in TS during childhood and explor...

Objective: To provide etiology-based diagnostics to pediatric patients with diabetes in Belgium using routine clinical phenotyping and thorough genotyping.Methods: A Belgian GENEPEDIAB study consortium was created to screen, using routine diagnostic tools, for monogenic forms of diabetes in pediatric patients followed in convention centers for type 1 or type 2 diabetes, while presenting atypical biological and clinical f...

Purpose: Clinical problems caused by impaired molecular function of inborn errors of immunity (IEI) genes are not limited to the immunological system but can also affect the endocrine system. An autosomal recessive form of severe congenital neutropenia also known as Kostmann syndrome (KS) is caused by mutations in the gene encoding the mitochondrial protein HAX1. Knowing that most endocrine disorders associated with IEI are hypofunction, a close cooperation be...

Current hormone substitution therapy of patients with congenital adrenal hyperplasia (CAH) is suboptimal and cannot mimic physiological daily rhythms of hormone secretion. As supra-physiological corticoid doses are necessary to avoid adrenal androgen excess, patients show substantially increased comorbidities such as hyperglycemia, arterial hypertension, reduced growth and osteoporosis. Moreover plasma ACTH is often inadequately suppressed, resulting in undesired excess adrena...

Objectives: To assess change in rates of pediatric CGM use over the past 5 years across demographic and clinical characteristics and association with hemoglobin A1c (HbA1c), data from 2 registries were compared: the US-based T1DX and the German/Austrian DPV.Methods: Registry participants in DPV and T1DX aged <18yrs with T1D duration ≥ 1yr with available data in any of the following years were included in the analysis (N for each year by registr...