ESPE Abstracts

Background: Pseudohypoparathyroidism (PHP) encompasses a group of rare disorders defined by target organ unresponsiveness to parathyroid hormone (PTH). Patients with PHP type 1A carry heterozygous mutations of the maternal GNAS gene that encodes the α-subunit of the G protein. This protein is coupled to the PTH receptor as well as to other heptahelical receptors - TSH, GHRH and gonadotropins receptors.Objective and hypotheses: To describe a...

Background: Loss of function mutations of CYP24A1, encoding vitamin D-24-hydroxylase, have been recently identified in idiopathic infantile hypercalcemia (IIH), a rare entity which may lead to severe complications.Objective: We describe a unique neurological presentation in an infant with IHH due to a novel CYP24A1 mutation.Case presentation: The patient was born at term after normal pregnancy to healthy non-consanguineous parents....

Background: Trabecular bone score (TBS) is an emerging technology to assess bone microarchitecture of the lumbar spine. In adults, this score has been shown to be a significant predictor for osteoporotic fractures, independently of major clinical risk factors and bone mineral density (BMD), and is a recommended tool in the evaluation and management of osteoporosis, especially secondary osteoporosis. To date, only few studies evaluated TBS in the pediatric popu...

Background: U.V. radiation exposure is the major environmental risk factor for skin cancers. However, sun avoidance leads to inadequate vitamin D levels which impair bone health. Moreover, numerous studies linked decreased sunlight exposure to non-skin cancer incidence or survival.Objective and hypotheses: To compare sun habits in a cohort of paediatric patients with a history of malignancy to healthy controls. We hypothesized that sun exposure will be d...

Background: Mitochondrial disorders resulting from single large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs) are a group of non-inherited congenital diseases that lead to three clinically overlapping syndromes: Pearson syndrome (PS), Kearns-Sayre syndrome (KSS), and chronic progressive external ophthalmoplegia (PEO). Although many reports have addressed endocrine abnormalities in patients with SLSMD, there hasn't been an in-depth study on these abno...

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder of childhood. Type 1 diabetes (T1DM) is the most common metabolic disease in children. The treatment of T1DM requires high executive functions and requires very intensive treatment that could be an obstacle for patients with ADHD. Dual diagnosis of T1DM and ADHD might affect treatment, control and complications of T1DM. In order to prevent long-term complica...

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder of childhood. Type 1 diabetes (T1DM) is the most common metabolic disease in children. The treatment of T1DM requires high executive functions and requires very intensive treatment that could be an obstacle for patients with ADHD. Dual diagnosis of T1DM and ADHD might affect treatment, control and complications of T1DM. In order to prevent long-term complica...

Introduction: Primary ovarian Insufficiency (POI) occurring in youth is a devastating condition. POI is characterized by at least 4 months of disordered menses in association with menopausal follicle stimulating hormone (FSH) levels. The most common causes of POI in adolescence are iatrogenic and chromosomal abnormalities. Data are scarce regarding the incidence of POI in adolescents.Objectives: We aimed to estimate the incidence and the distribution of ...