ESPE Abstracts

Inborn Errors of Immunity (IEI) include more than 400 disorders representing aberrant function or development of the immune system. Recently, more attention has been paid to the interaction between the immune and endocrine systems. In this study, we aimed to investigate endocrine disorders in a cohort of IEI. We investigated the prevalence, clinical, and laboratory features of endocrine disorders in patients who were diagnosed with IEI from 1994 to 2022 in Samsung Medical Cent...

Introduction: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare condition characterized by symptomatic ACTH deficiency and primary hypogammaglobulinemia, caused by a heterozygous mutation in the NFKB2 gene (MIM#164012) on chromosome 10q24. We report the novel mutation of the NFKB2 gene in a Korean boy presenting with gait disturbance, calf pain, and abnormal thyroid function test.<s...

Purpose: Anorexia nervosa (AN) increases the risk of impaired bone health, low areal bone mineral density (aBMD), and subsequent fractures. This study investigated the long-term effects on bone and biomarkers in young women with AN.Methods: Twenty-five Swedish female AN patients, median age 21.0 years (16.1 to 24.3 years), median BMI 15.4 kg/m2, were included, 22 patients completed a high-energy in-patient treatment for ...

Background: The incidence of ES in children varies greatly depending on the population surveyed, ranging from 1.2%-9% to 68% (children without and with known endocrinopathies, respectively). MRI is the main diagnostic tool for screening pituitary and in a previous KIGS study, 3.0% of patients with GHD were identified with ES and 7.8% with pituitary hypoplasia (Maghnie et al, EJE (2013).Aim: T...

Background: The precision of adult height prediction by bone age determination in children with idiopathic growth hormone deficiency (IGHD) is unknown.Patients and Methods: The near adult height (NAH) of patients with IGHD with prepubertal onset of growth hormone treatment (GH) in the KIGS database was compared to adult height prediction based on bone ages (BA) >7 years using the Bailey Pinneau (BP) or Tanner-Whiteho...

Introduction: Vitamin D deficiency in children is still a global health problem. Measuring free 25-hydroxyvitamin D concentrations could provide a better estimate of the vitamin D status than total 25-hydroxyvitamin D (25(OH)D) levels.Objective: To assess the relationship between measured free vitamin D (m-f25(OH)D) and calculated free 25(OH)D (c-f25(OH)D), total 25(OH)D, intact parathyroid hormone (iPTH) and other markers of phosphocalcic metabolism. Es...

Background: The combination of type 1 diabetes mellitus (T1DM) and GH deficiency is uncommon. In a previous study (1) we found that in children with T1DM and GHD with adequate adaptation of insulin dosage, the metabolic control of T1DM did not worsen during GH treatment. However, decreased catch-up growth was observed and no data on GH dose was available.Objective: To analyse first year treatment growth response and GH dosage in prepubertal patients with...

Background: Pfizer International Growth Database (KIGS) contains data of Turner syndrome (TS; N=7378) or Noonan syndrome (NS; N=613, female=224; male=389) patients who were treated with rhGH.Objective: To compare the effect of rhGH on near adult height (NAH) in TS and NS patients. We hypothesized a similar outcome in both diagnoses. Determinants of the treatment outcome in NS patients were also assessed.Patients a...

Background: Treating central precocious puberty with GnRH agonist (GnRHa) to increase height gain is well-established. Although not recommended, GnRHa have also been used in patients with IGHD at onset of puberty yet there are few data on its efficacy.Objective and hypotheses: Growth prediction models derived from KIGS (Pfizer International Growth Database) may provide an opportunity to estimate additional height gain produced by pubertal blockade.<p...

Background: Children with ISS have an array of causes that lead to short stature and/or poor growth velocity. Genetic causes of short stature, notably SHOX mutations, can be associated with subtle skeletal disproportion with shorter limbs, manifesting as increased sitting-to-standing height ratios or SDS.Objective and hypothesis: Children with ISS and skeletal disproportions have a diminished growth response to GH treatment compared to chi...