ESPE Abstracts

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...

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...

The majority of patients with Variations of Sex Development (VSD) lack a genetic diagnosis. Patients that are born with atypical chromosomal, gonadal, or phenotypical sex, present a wide spectrum of phenotypes that are often associated with ambiguous genitalia, infertility as well as increased susceptibility to testicular or ovarian cancer. Many different genetic causes of VSD have been reported [2], but for more than 50% [3] of all VSD patients, the molecular cause of their c...

Background & Aims: Children with acute lymphoblastic leukemia (ALL) frequently receive high doses dexamethasone during treatment, which may induce acute side effects. The aims of the current study were to determine the influence of a five-day dexamethasone course on changes in leptin, fat mass, body mass index (BMI), hunger, sleep and fatigue and to explore the associations between these changes.Methods: Pediatric AL...

Background: Bone age evaluation is a basic tool to manage the treatment of girls with Turner syndrome (TS). The current standard of care is to involve an experienced medical staff to use the Tanner Whitehouse 3 (TW3) or Greulich-Pyle (GP) method for manual evaluation of the bone age. As this is time consuming and may be partially influenced by the evaluator’s skills, automated systems may prove more efficient.Objective and hypothesis: The aim of thi...

Background: ALS deficiency is characterized by mild short stature, delayed puberty, low serum IGF1, low serum IGFBP3 and undetectable serum ALS levels.Case: A 11.3 years old boy presented with short stature. He was born at term to consanguineous parents and the birth weight was unknown. On physical examination, his height and weight were 130.5 cm (−2.33 SDS) and 25.2 kg (−2.36 SDS) and he was prepubertal. The routine laboratory tests were nor...

Background: The influence of GH on prepubertal children with Kabuki Syndrome (KS) is a novel field of research. KS is a congenital anomaly/intellectual disability syndrome caused by a mutation in the KMT2D or KDM6A gene. These mutation causes distinct phenotypically features, such as short stature and facial dysmorphology. Earlier studies describe a high incidence of obesity in children with KS.Aims and objectives: In this prospective s...

Background: The influence of growth hormone (GH) on the metabolism of prepubertal children with Kabuki syndrome (KS) was never investigated before. Kabuki syndrome (KS) is a rare syndrome, which is mainly characterized by mental retardation, short stature, specific facial features, obesity and hypotonia. This syndrome caused by a mutation in the KMT2D or KDM6A gene.Objective and hypotheses: In this prospective study we investigated the ...

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...

Background: It has been shown that a proportion of relatives with multiple islet auto antibodies do not develop diabetes for many years, indicating that a more accurate marker of advanced insulitis is needed.Objective and Hypotheses: We evaluated whether the level of HbA1c can discriminate children at risk of T1D onset in a cohort of auto antibody positive relatives.Method: A total of 74 subjects <18 years of age who were parti...