ESPE Abstracts

Background: At 14 years of age for boys and 13 years for girls, delayed puberty with low gonadotropic hormones can either be a chronopathologic feature (constitutional delay of puberty – CDP) or the subclinical unmasking of a future isolated hypogonadotropic hypogonadism (IHH). The two conditions are difficult to differentiate at these specific ages.Objective and hypotheses: We aimed to identify clinical and paraclinical features which correlate wit...

Background: Glucose metabolism effects of vitamin D deficiency are debated. GH therapy is associated with increased insulin values and decreased insulin sensitivity.Objective and hypotheses: To investigate vitamin D status in short children treated with GH- to investigate if the known effects of GH therapy on glucose metabolism are modulated by vitamin D supplementation.Method: 41 children treated with GH for short stature where ev...

Introduction: Kabuki Syndrome (KS) is a rare genetic disorder characterised by dysmorphic facies, poor developmental growth, hypotonia, skeletal abnormalities, intellectual disability, as well as systemic malformations. The pathogenic or likely pathogenic variants of the KMT2D or KDM6A genes are responsible for about 70% of the cases, while the rest are diagnosed based on clinical features consistent with KS. This paper reviews the clinical features, genetic t...

Background: Data on metabolic effects of gonadotropin-releasing hormone agonist (GnRHa) therapy are still controversial.Objective and hypotheses: To longitudinally evaluate the effect of GnRHa therapy on BMI, glycaemic metabolism and lipid profile in children affected by idiopathic central precocious puberty (CPP).Method: This longitudinal retrospective study included data from 42 children (7.70±0.80 years, 2 males) affected b...

Background: Isolated persistence of Müllerian ducts in an otherwise normally virilised 46,XY newborn, a condition known as PMDS, is a disorder of sex development (DSD) due to a defect limited to AMH-dependent Müllerian duct regression.Objective and hypothesis: We report the case of a patient with PMDS and extremely low serum AMH in whom no mutations were detected in the AMH gene coding sequences. A single base deletion identified in th...

Background: More than two thirds of teenagers with childhood-onset GH deficiency (CO-GHD) documented normal GH response when retested at final height.Objective and hypotheses: To identify potential predictors for persistent GHD after reaching final height under rhGH with a particular accent on children with isolated GHD (IGHD).Method: Prospective study: reevaluation CO-GHD in the transition period; cohort of 27 CO-GHD patient who r...

Introduction: Prader-Willi syndrome (PWS) is a rare paternally inherited genetic disorder caused by alteration of chromosome 15q11-q13. Associated hypothalamic impairment leads to hyperphagia which therefore increases the risk for morbid obesity, dyslipidaemia, insulin resistance and arterial hypertension and in the end increases mortality. Patients with PWS benefit of recombinant growth hormone (rGH) treatment despite the GH reservoir to improve their impaire...

The aim of this study was to perform familial co-segregation analysis and functional trial in vivo during mixed meal tolerance test (MMTT) of novel variants in diabetes candidate genes.Methods: This study is a continuation of collaborative research project “Genetic diabetes in Lithuania” with the cohort of 1209 young diabetes patients. Prior screening for GADA, IA-2, IAA, ZnT8A confirmed type 1 diabetes (T1D) diagnos...

Background: A one-month-old girl was referred to our unit for osteogenesis imperfecta (OI). She was the first child of non consanguineous parents. The father had no history of fracture. The mother, 28 years-old, presented with a severe OI, short adult height (140 cm), moderate scoliosis. She had more than 20 limb fractures, no vertebral fracture and bowing limbs without need of surgery. She received Bisphosphonates during 3 years until 12 years of age. Then sh...

Background: The iNCGS Registry monitored long-term safety and effectiveness of NutropinAq® (Somatropin injection) for paediatric growth disorders.Objective: To report year-1 effectiveness and safety data from the iNCGS registry (NCT00455728).Methods: Open-label, non-interventional, post-marketing surveillance study, in seven European countries from October 2005–December 2016. Measurements included height Standa...