ESPE Abstracts

Introduction: Monocarboxylate transporter 8 (MCT8) deficiency is an ultra-rare genetic disease, associated with severe cognitive and motor disability and symptoms of chronic peripheral thyrotoxicosis. The aimof this analysis is to describe the HRQoL impact experienced by patients with MCT8 deficiency as described by their caregivers.Methods: Informal caregivers of patients with MCT8 deficiency completed an online cross-s...

Introduction: Angelman syndrome is caused by de novo maternal deletions in 15q11-q13 region of chromosome 15 in approximately 70% of affected children.Patient and Methods: A two and a half year-old boy with hypotonia, absence of speech, low weight (-4.38 SDS) and short stature (-1.14 SDS) had pale skin and typical facial features with wide and prominent forehead, low-lying ears, wide mouth, small and widely spaced te...

Background: Although GH’s safety profile since 1987 is good, concerns remain regarding cancer (CA) risk, and French SAGhE data indicated increased mortality and cerebrovascular disease (CVD) in certain GH-treated patients (pts).Objective and hypotheses: To evaluate key safety outcome incidence in GH-treated pts of all short stature diagnoses (dx) who participated in GeNeSIS (1999–2015, 30 countries).Methods: Pt history/ca...

Introduction: Children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) require glucocorticoid (GC) therapy to replace cortisol insufficiency and reduce excess adrenal androgens. Supraphysiological GC doses are typically required, predisposing patients to GC-related comorbidities. In Phase 2 studies, participants with CAH who received crinecerfont, a novel oral CRF1 antagonist, experienced reduction of the adrenal a...

Introduction: The physiological process by which vitamin D regulates calcium and phosphorus metabolism, the major mineral constituents of bone tissue, is by far very well understood. However, the clinical implementation of vitamin D deficiency on bone fragility in childhood remains controversial.Objective: The aim of this case-control study is to investigate the prevalence of vitamin D deficiency among Lebanese children who experienced a ‘low-energy...

Introduction: Dyslipidemia has been recognized as a risk factor for cardiovascular diseases. Studies showed that the development of atherosclerotic lesions begins in childhood and progresses throughout life. While the prevalence of dyslipidemia in adults has been reported to be 10 times higher in Lebanon, there is no available data on the prevalence of dyslipidemic children in Lebanon.Objectives: This study was conducted to check if a protocol for univer...

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

Background: Hypoparathyroidism is a rare disease characterized by inadequate parathyroid hormone (PTH), resulting in hypocalcemia and hyperphosphatemia. Hypoparathyroidism can be transient, inherited, or acquired, and is caused by inability to synthesize or secrete PTH, abnormal parathyroid gland development, destruction of parathyroid tissue, or peripheral resistance to PTH.Methods: Medical records from 20 children and adolescents diagnosed with hypopar...

Introduction: The extracellular calcium-sensing receptor (CaSR) enables the parathyroid glands and other CaSR-expressing cells involved in calcium homeostasis to sense alterations in calcium serum concentrations. Mutations in the CASR gene may produce gain or loss in its activity. Activating mutations cause a hypocalcaemic syndrome of varying severity, as autosomal-dominant hypocalcaemia or Bartter’s syndrome.Case report: We describe a 6 months infa...

Background: The concentration and conformation of carotenoids and blood plasma in girls with Turner syndrome (TS) were observed.Objective and hypotheses: The level and conformation of blood plasma carotenoids could be used as markers of overall condition of patients. The obtained data was compared with the parameters of antioxidant status before and after 1 year of GH therapy.Method: 12 prepubertal girls (median 13.2 years) with TS...