ESPE Abstracts

Background: In children, congenital hyperinsulinism is the most common cause for endogenous hyperinsulinaemic hypoglycaemia (HH). Beyond infancy other diagnoses may be considered, such as insulinoma, an insulin-secreting neuroendocrine tumour (NET) arising mostly from the pancreas. The latter is a rare cause of HH in children. The estimated incidence of insulinoma is 1:250’000 person-years of all age groups with a median age at diagnosis of 47 years. Herein, we report an ...

Background: Most children with idiopathic short stature (ISS) have a delayed bone age (BA). ISS with advanced BA is far less common. We studied three families with autosomal dominant short stature, unexplained BA acceleration, and premature growth cessation.Objective and hypotheses: To identify the genetic cause of this condition and describe its clinical spectrum.Method: Whole exome sequencing was performed in selected individuals...

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

Background: Very tall people attract a lot of attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth.Methods and Results: We studied a three-generation pedigree with several isolated (non-syndromic) tall members by whole exome sequencing; the tallest man had a height of 2...

Background: Pubertal growth and adult height are important to many transgender adolescents undergoing medical transition. However, few studies are available on the impact of puberty suppression (PS) with GnRH analogues (GnRHa) and hormonal therapy (HT) with testosterone on growth. In this longitudinal cohort study, we investigated the effect of PS and HT on growth and adult height in transgender boys.Methods: A total of ...

Background: In males with congenital hypogonadotropic hypogonadism (CHH), LH/FSH stimulation of gonads is deficient. In clinical practice, two hormone replacement strategies are employed to induce and maintain virilisation: Treatment with testosterone and gonadotropin replacement with hCG/rFSH.Objective: To delineate the role of gonadotropins in pathways of male androgen biosynthesis and to thereby better define the gona...

Introduction: Adrenal insufficiency (AI) leads to a diminished production of steroid hormones. AI is subdivided into a primary and a secondary form. In primary AI, the underlying defect affects the adrenal gland itself resulting in a low steroid production and an overproduction of adrenocorticotropic hormone (ACTH). On the contrary, the cause of secondary AI lies in the pituitary, leading to a reduced production of ACTH and consecutively to a reduced excretion of corticosteroi...

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...

Background: Emotional and behavioural problems are often used in support of GnRH agonists therapy in girls with early pubertal timing. However, there is little evidence to show that CPP leads to psychological distress and whether treatment is associated with improved psychological outcome.Objective and hypotheses: The objective of this qualitative study was to explore the psychosocial impact of ICPP in recently diagnosed girls.Meth...

Background: T1DM may influence growth and pubertal development and vice versa. Delayed pubertal development and reduced final height are known to be associated with inadequate metabolic control. Many factors including insulin resistance during puberty and insufficient adherence may be responsible for increasing HbA1c.Objective: Is pubertal growth spurt associated with an increase of HbA1c? Are there gender differences in metabolic control during...