ESPE Abstracts

Introduction: Children with CAH need a supraphysiologic dose of hydrocortisone, from 12-20 mg/m2/day to suppress adrenal androgens. Patients with difficult-to-treat CAH typically present with a combination of CAH-related (hyperandrogenemia, advancedbone age and short stature, amenorrhea) and glucocorticoid overtreatment–related clinical symptoms. Continuous subcutaneous hydrocortisone infusion therapy (CSHI) administered via an insulin pump has been used...

The 1st lockdown from March to May 2020 probably led to an increase in the number of cases of idiopathic central precocious puberty in several European countries. Two Italian studies showed this, as well as a Spanish and a Turkish one. We performed a retrospective study with all the children who came to our department for a 1st appointment or a check-up for pubertal signs between 01/04/2017 and 31/03/2021. We checked the data of 765 files and kept only the children with a diag...

Short stature and hypogonadism are frequent symptoms in Turner syndrome (TS). In most cases, puberty must be induced but pubertal induction modalities are not consensual. Moreover, pubertal induction impact on final height and pubertal growth spurt has not been studied in depth. Our aim was to study factors influencing final height during pubertal induction in TS. Retrospective cohort of 45 TS girls followed in a single center: Bicetre hospital. We recorded auxological paramet...

Background: Treatment of growth hormone deficiency (GHD) requires daily injections over many years. Connected digital health devices can facilitate GH treatment by automating the injection process, which reduces anxiety, and collecting injection data in real-time so that accurate adherence information is available to healthcare professionals (HCPs). In developing new digital health solutions, HCP perspectives should be considered.<strong...

Growth failure is the gateway to a myriad of childhood and adolescent diseases. In the majority of cases, growth retardation is said to be constitutional after a detailed diagnostic evaluation. In the literature, there is a high degree of heritability of height (> 80%), underlining the predominant role of genetic factors.Objective: To identify new causes of growth retardation in 61 patients with constitutional familial short stature b...

Classical growth hormone insensitivity (GHI) is caused by a defect of the growth hormone receptor and is characterized by severe postnatal growth failure, craniofacial disproportion, IGF-I deficiency and normal or elevated levels of growth hormone. This is a rare condition. With the development of new genetic techniques during the last two decades other monogenetic defects resulting in milder forms of GHI have been identified. These include genes involved in the GH-IGF-I axis:...

45,X/46,XY mosaicism is a rare karyotype and patients present with varying phenotypes from Turner females to males. Genital phenotype, gonadal function and histology, and growth are all affected to varying degrees by the karyotype. Information on these long-term outcomes is scarce and larger multicenter studies are needed. Therefore, in collaboration with 17 centers, we performed a study including 59 post-pubertal males that had reached adult height. Centers were identified an...

Background: This multi-country study, conducted in the USA, is also ongoing in France, Germany, Brazil and South Korea (52 healthcare professionals (HCPs) and 30 patients/caregivers in total). The new device consists of a reusable aluminium body and cap, with a multi-use cartridge system, viewing window, dose-display window, dose-selection knob and injection button.Method: Semi-structured 60-min qualitative interviews were conducted in six major US citie...

Background: Medullary thyroid cancer (MTC) in MEN 2A is caused by mutations in RET. Guidelines (2001/2009/2015) recommend prophylactic total thyroidectomy (TT) based on mutation specific risk levels (ATA 2015: high/moderate).Objective: The aim of this study was to analyse changes of age at TT, frequency of metastatic MTC (MMTC), and frequency of TT according to guidelines since introduction of RET testing in 1995....

A ten year old girl was brought by the emergency mobile service for a persistent status epilepticus despite administration of Diazepam on site. She had presented headaches for the last three days and one episode of fever was suspected but not measured four days earlier. She had one episode of dizziness five days earlier.Persistent status epilepticus required invasive ventilation as well as deep sedation with Levetiracetam, Midazolam, ketamine, phenytoin,...