ESPE Abstracts

Background: Klinefelter syndrome (XXY) is characterised by sex hormone aneuploidy. It is one the most common causes of primary hypogonadism, impaired spermatogenesis and testosterone deficiency. It affects around 1 in 500 phenotypic males. Approximately 25% of the patients are diagnosed in childhood. The hallmark of the condition is the small volume of the testicles and azoospermia. Most adolescent progress through puberty at the expense of elevated gonadotrophins.<p class...

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Introduction: The EQ5D questionnaire is an openly available, validated, age-specific and generic measure of quality of life (QoL) which takes less than 5 minutes to complete. A higher dimension score and a lower visual analogue scale (VAS) is associated with worse QoL. Our aim was to use this tool to assess the QoL of patients with a wide range of paediatric endocrine conditions in the routine clinical setting.Methods: B...

Background: Nonimmune neonatal goitrous hypothyroidism is a rare cause of neck mass and stridor. Retropharyngeal extension, described in 7% of cases of goitre spreading outside the thyroid bed, represents a diagnostic dilemma that requires a systematic multimodality imaging approach combined with hormonal and genetic analysis. We report the case of a one-week-old baby who presented with stridor and respiratory distress, without palpable neonatal goitre and whose biochemical pr...

Background: To aid assessment of parent-reported quality of life outcomes (PRO) in routine clinical setting in young children with a condition affecting sex development, a short questionnaire (PRO-CSD) that includes a parent-proxy report (PPR) and a parent-self-report measure (PSR) has been recently developed and requires further validation. Methods: Parents of 98 boys with a median age of 2.9 yrs (range, 0.2,6.5) and me...

Introduction: Although the safety and effectiveness of recombinant human growth hormone therapy (rhGH) has been reported for several years, the level of consensus on the outcomes that should be reported is unclear. The aim of this systematic review is to study the frequency of reporting of these outcomes in children with GH deficiency (GHD).Methods: A systematic review was performed in Medline, Embase, Cochrane Central R...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...

Aims: Historical I-CAH data shows considerable variation in the management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in infancy despite existence of several guidelines. Using the I-CAH registry we analysed contemporary early infancy natural history data, creating benchmarks as part of continuous quality improvement.Methods: Of 136 infants born in 2018-2023 and treated for 21-OHD CAH withi...

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compare it ...