ESPE Abstracts

Background: An abnormal blood pressure (BP) circadian rhythm, and in particular a non- dipping phenomenon is associated with increased cardiovascular and cerebrovascular health risks. In patients on steroid replacement therapy non physiological substitution may affect the BP profile.Objective and hypotheses: i) to evaluate the circadian BP profiles of patients with congenital adrenal hyperplasia (CAH) on steroid replacement therapy, ii) to compare BP pro...

Background: Arterial hypertension (AH) is one of the most common and the earliest complications of childhood obesity. It is diagnosed on the basis of at least three results of the standard setting measurements of systolic (SBP) and diastolic (DBP) blood pressure. Nevertheless, some data suggest, that this diagnostic standard may be not sufficient for obese children, because some BP abnormalities, unique for these patients, (decrease of night dip, elevated SBP/DBP load) cannot ...

Background: Liver tests abnormalities are common in adult patients with Turner Syndrome (TS). The data regarding liver tests in children and adolescents with TS remain lacking.Design and patients: A cross-sectional review of liver function of 100 girls with TS (age range 4–16, the mean BMI SDS 0.63 [−1,86 −6,78]); 56 receiving rhGH therapy (9 obese, 47 normal weight), and 44 receiving rhGH therapy and estrogen or estrogen/progesterone ho...

Background: Estrogen replacement is a treatment of choice for pubertal induction in adolescent girls with ovarian failure due to Turner syndrome (TS). Recently published data show, that prepubertal low dose estrogen replacement is more physiologic, and can optimize response to growth hormone treatment, pubertal timing, and improve cognition. The metabolic effects of such treatment regimen have not been fully investigated to date.Objective and hypotheses:...

Background: Bardet-Biedl syndrome (BBS) is a rare autosomal ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal anomalies, mental retardation and hypogonadism as well as minor features, which include diabetes mellitus, cardiac dysfunction and behavioural abnormalities. Hypertriglyceridaemia in BBS patients has not been reported to date.Objective and hypotheses: Presentation of the diagnosis and treatment of hypertriglice...

Background: Arterial hypertension (AH) in young patients with Type 1 Diabetes (T1D) occurs more often, and at younger age than in general population. A reduction of nighttime dip value is considered as an early marker of AH risk.The aim of this study: was to identify the association between AH, and abnormal nighttime dip and diabetes-related factors: duration time and glycemic controlMethod...

Objectives: 1. To describe the clinical, biochemical and testicular ultrasonographic features in a population of males with congenital adrenal hyperplasia (CAH) and Testicular Adrenal Rest Tumor (TART). 2. To identify factors related to the onset of TART. 3. To evaluate the therapeutic management and outcome of TART.Methods: Males with classic and non-classic 21β-hydroxylase-deficient CAH, diagnosed with TART, follo...

Introduction: Gonadectomy may be indicated in people with differences or disorders of sex development (DSD). Based on historical data from the International-DSD (I-DSD) Registry that showed considerable practice variation, this I-DSD care quality improvement project seeks to determine, through prospective surveillance, the frequency of gonadectomy in individuals with DSD internationally.Methods: All existing I-DSD centre...

Introduction: The Global Registry For Novel Therapies In Rare Bone & Endocrine Conditions (GloBE-Reg, https://globe-reg.net/) project was launched in 2022 with the aim of supporting studies that focus on effectiveness and long-term safety of specific therapies. The project’s initial focus has been on recombinant human growth hormone therapy (rhGH) given that there are existing gaps in knowledge with the introdu...

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...