ESPE Abstracts

Background: Diabetes mellitus (DM) is a chronic metabolic disorder requiring daily care to prevent both acute and chronic complications. Healthcare providers are challenged to manage the transition of adolescents from paediatric to adult diabetes services. Until recent date, this change of the medical team was lived by teenagers as a tearing and a discontinuity of the medical care.Objective and hypotheses: While centres providing structured integrated pa...

Background: Oral LUM-201 normalizes growth rates in moderate PGHD over 12 months (Phase 2 Trials: OraGrowtH210/OraGrowtH212) [FC-746 ESPE 2024]. In OraGrowtH212, GH profiles, based on 10-minute sampling over 12 hours (8am-8pm), showed significant increases in inter-pulse, pulsatile and total GH secretion in response to 1.6 and 3.2 mg/kg/day doses of LUM-201 over 6 months, with no difference between the doses [FC14.3, ESPE 2023].O...

Anorexia nervosa (AN) manifests in the restriction of energy intake relative to energy output. Atypical AN includes those who meet the criteria for AN but are not underweight. Hypothalamic amenorrhea can be a presenting symptom in AN, and the return of menses is part of recovery. It can take more than a year for menses to return after weight restoration and nutritional rehabilitation. Hypercortisolemia is common in AN, but usually does not cause cushingoid symptoms We describe...

Background: Tumor necrosis factor alpha (cachexin) is a cell signaling cytokine involved in systemic inflammation process. It is produced chiefly by activated macrophages, although it can be produced by many other cell types such as CD4+ lymphocytes, NK cells, neutrophils, mast cells, eosinophils, and neurons. The primary role of TNF alpha is the regulation of immune cells. TNF, being an endogenous pyrogen, is able to induce fever, apoptotic cell death, an...

Background: Data on congenital isolated growth hormone deficiency (cIGHD), mostly due to consanguinity, treated in childhood and followed into adult age is very rare and on few patients.Aim: To assess the clinical and social characteristics of adults with cIGHD who were treated in childhood and followed thereafter.Subjects: Thirty nine patients with cIGHD from our clinic were followed into adult age (mean age 30.7±13.3). All w...

Background: Proper endocrine function of testicles is essential for the healthy development of children and for adult life.Methods: Hormonal profiles of patients (aged 1–18 years) were evaluated several years after surgical testicular torsion treatment. Blood samples were obtained between 11a.m and 1p.m. to measure serum levels of FSH, LH, AMH, testosterone, VEGF-A total, IGF-1, IGFBP-3 and autoantibodies against sperm and Leydig cells.<p class=...

Background: Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and diabetes mellitus. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body.Objective and hypotheses: The...

Background: The cardinal feature of the resistance to thyroid hormone (RTH) is reduced responsiveness of target tissues to thyroid hormone action caused by thyroid hormone receptor β gene (THRB) mutations impairing hormone binding in the majority (90%) of cases. It results in elevated serum levels of free thyroxine (FT4) and triiodothyronine (FT3) associated with unsuppressed thyroid SH.Objective and hypotheses: The ai...

Background: Polycystic ovary morphology (PCOM) in USG should not be identified with polycystic ovary syndrome (PCOS) and it is not a criterion for diagnosis of this syndrome in adolescents.Objective and hypotheses: Assessment of the usability of 3D ultrasonography in diagnostics of androgen excess disorders.Method: 40 girls aged 14–18 with hyperandrogenism were subjected to endocrinological examinations and transrectal USG of ...

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. In 2016, nusinersen (Spinraza) was approved by the FDA. The first AAV9-based gene therapy (Zolgensma), was approved by the FDA (2019) for the treatment of infants with SMA. We report an SMA case with recurrent hypoglycemic events after gene therapy.Case Report: A 22 months old boy, with SMA type 1 was born at term by CS for fetal bradycardia....