ESPE Abstracts

Objective: Osteogenesis imperfecta is an inherited disorder characterised by bone fragility. Antiresorptive treatment with bisphosphonates is a well-established first line medical treatment in OI types III/IV. Nevertheless, there is no consensus on treatment modalities, like which bisphosphonate to use in which dose and when to initiate treatment. The objective of this work was to evaluate the therapeutic effect of a one-year treatment period with bisphosphona...

Background: We describe the incidence, etiologies and clinical features of combined pituitary hormone deficiency (CPHD) in pediatric patients from a single tertiary center.Methods: The cohort comprised of patients with CPHD, treated in the Helsinki University Hospital between 1985 and 2018. They were identified through an ICD-9/ICD-10 code search, and the clinical data were recorded from the patient charts.<p class="...

Background: Patients with 45,X/46,XY mixed gonadal dysgenesis (MGD) have variable phenotypes leading to both male and female sex assignments. A multidisciplinary team should guide the process of sex assignment, however a standardized approach may provide objective guidance for the team as well as a tool for settings without such resources. One of the most important considerations for sex assignment is the hormonal production, which often determines the degree of virilization. ...

Background: The 6-min walk test (6MWT) is a simple, accurate and safe method to measure functional exercise capacity. The 6MWT is increasingly used in children to predict morbidity and mortality from cardiopulmonary disease, to assess functional capacity and measure disease progression in chronic childhood conditions such as muscular dystrophy.Objective and hypotheses: To provide smooth reference curves for the 6-min walk distance (6MWD) in healthy child...

Background: Congenital hypogonadotropic hypogonadism (CHH) provides a model to study the impact of sex steroid deficiency on childhood growth.Aims and objectives: We characterised growth patterns in male CHH patients with special emphasis on growth during the minipuberty of infancy.Methods: Growth charts of 38 men with CHH (28 from Finland and 10 from Denmark) were evaluated. Fifteen (39%) patients had representative length measure...

Background: The hypothalamic–pituitary–adrenal (HPA) axis, and cortisol in particular, has been reported to be involved in obesity-associated metabolic disturbances in adults and in specific populations of adolescents.Objective and hypotheses: To investigate the associations between serum ACTH and cortisol levels and cardiovascular risk factors in obese children and adolescents.Method: Of 1119 obese children and adolescen...

Background: IGF1 is an important marker of GH treatment and is used to titrate the GH dose.Objective and hypotheses: We report the correlation between the GH treatment induced increase in IGF1 and growth improvement in short children born small for gestational age (SGA).Method: We recruited 13 pre-pubertal SGA children (eight boys, five girls) who received GH treatment. Eight continued treatment for >2 years. We retrospectively...

Background: Osteogenesis imperfecta (OI) is a genetic connective tissue disorder with variable phenotype, mainly characterized by bone fragility, short stature and non-skeleton findings. Since growth failure is a predominant feature of OI, recombinant human growth hormone (rhGH) has been suggested as a potential intervention. We describe two boys with OI type I treated with rhGH.Case Reports: Patient 1 had the first frac...

Background: The phenotypic spectrum of short stature homeobox-containing gene deficiency disorders (SHOX-D) ranges from non-specific short stature to Leri-Weill dyschondrosteosis. Current guidelines support rhGH in SHOX-D children, but long-term data are still lacking. Moreover, no correlation has been established yet between the severity of phenotype, including the response to rhGH, and the underlying SHOX pathogenic variant.Aims: To ev...

Background: Controlling therapy of infants, especially from neonates onwards, with classic congenital adrenal hyperplasia (CAH) is challenging due to the lack of reference values.Methods: We retrospectively analyzed 158 spot urinary steroid hormone metabolite profiles determined by gas chromatography–mass spectrometry (GC-MS) of 60 infants aged 0–4.2 years with classic 21-hydroxylase deficiency (21-OHD) on hydr...