ESPE Abstracts

Background: Children with myelomeningocele (MMC) run an increased risk of developing early or precocious puberty (E/PP). In previous studies of such children we found that the incidence of E/PP was 52% in girls and 21% in boys and that E/PP was strongly associated with increased intracranial pressure perinatally. It is also known that the occurrence of hydrocephalus without MMC is associated with risk of E/PP.Objective and hypotheses: The aim was to stud...

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

Background: The sonic hedgehog pathway (SHH) regulates CNS development and mutations or abnormal expression of the SHH pathway genes have been identified in epithelial tumors. SHH pathway interacts with Wnt/β-catenin signalling. To date, CTNNB1/β-catenin mutations are the sole molecular abnormality found in adamantinomatous craniopharyngiomas (ACPs).Objective and Hypotheses: To analyze the expression pattern of SHH pathway genes in ACPs and its...

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...

Background: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...

Context: Children with 21-hydroxylase deficiency (21OHD) require chronic glucocorticoid administration to substitute glucocorticoids and suppress adrenocorticotropic hormone-induced hyperandrogenemia. There is still no evidence about the best timing of the highest hydrocortisone (HC) dose. Administration of the highest dose in the morning aims to mimic the physiological rhythm of cortisol, while a high dose late in the evening may inhibit the early-morning inc...

Introduction: Diabetic cardiomyopathy is defined as myocardial dysfunction which is independent from any other ischemic, valvular or hypertensive etiology. It is a multifactorial condition caused mainly by a change in the myocardial structure leading sometimes to fibrosis especially in patients with poor diabetes control.Aim: To assess whether type 1 diabetic children and adolescents have early echocardiographic signs of...

Background: Basal 17OHP levels to indicate an ACTH-stimulation test and post-ACTH 17OHP cut-off levels diagnosing NC-CAH vary among different guidelines.Objective: To establish the performance of basal and post-ACTH 17OHP concentrations for the NC-CAH diagnosis in children with precocious pubarche (PP).Methods: Clinical, biochemical, and molecular analysis from 202 PP patients subm...

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...

Background: Deficiency of one or more pituitary hormones, often with growth hormone (GH) deficiency, is defined as multiple pituitary hormone deficiencies (MPHD) or congenital hypopituitarism (CH). CH cases are mostly sporadic and have a prevalence of 1/3000-4000 live births. There are many known and yet unknown molecular pathways explaining the complex structure and functions of the pituitary gland. Many different gross and small sequence variants in the gene...