ESPE Abstracts

Introduction: Non-communicable diseases are recognized as a major cause of morbidity in low and middle-income countries (LMICs). There are 21 francophone countries (>100 million speak French) in Sub-Saharan Africa (FSSA). We identified only 19 pediatric endocrinologists in FSSA (37% in Cameroon and Senegal) mostly trained in France or through the successful anglophone “Paediatric Endocrine Training Centers for (West) Africa” (PETC[W]A) offered i...

Background: Nutritional rickets (NR) is the most common growing bone disease, and vitamin D deficiency (VDD) may predispose to other diseases (diabetes mellitus, cancer, and multiple sclerosis). Maternal VDD and exclusive breastfeeding without supplementation are the most frecuent causes of NR in the neonate. VDD is still a problem in Europe. There are few reports of maternal hypovitaminosis D and rickets in bottle-fed infants during early infancy. We report a case of Nutritio...

Background: TSH cut-off (CO) levels has been lowered progressively in many screening programs. Nevertheless, population detected with lower CO levels differs in severity and etiology.Objective and hypotheses: To describe the etiological characteristics and severity of children detected by neonatal screening related to CO TSH levels.Method: We analysed the data of congenital hypothyroidism (CH) neonatal screening performed between J...

Introduction: Generally, patients with X-linked hypophosphatemic rickets (XLH) experience normal puberty. However, they can be affected by metabolic and environmental factors that may predispose them to central precocious puberty (CPP) and impair their predicted final height, similar to the general population.Case Report: A female patient was diagnosed with XLH at three and received regular treatment with calcitriol and ...

Background: Recent studies in multiple models of type 1 diabetes mellitus (T1DM) have demonstrated the role of mitochondrial abnormalities in the pathogenesis of this disease and its complications. Humanin is a potent cyto-protective and ‘metaboloprotective’ molecule in vitro and in vivo, including the protection of β cells from apoptosis, improvements in insulin secretion and action, and both prevention and treatment of diabetes in the NOD mou...

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: To investigate the frequency of IGF1R mutations in a cohort of patients with pre- and/or postn...

Background: Virilization of young children after topical androgen use by their fathers through skin contact is well-known. The long-term consequences of such exposure at very young age are not well known.Objective and hypotheses: The aim is to report the occurrence of spermarche in a young boy and central precocious puberty in a young girl as late consequences of interpersonal transfer of testosterone gel.Method: Testosterone conta...

Background: Recently, mutations in the maternally imprinted MKRN3 gene have been associated to familial idiopathic central precocious puberty (iPPC). The clinical phenotype and the frequency of these mutations are poorly described.Objective and hypotheses: Delineate the frequency of MKRN3 mutations in iPPC and perform a genotype–phenotype correlation in MKRN3 mutated patients.Method: 59 index cases with iPPC have been included...

Aim: to study sleep quality, using accelerometry in children and adolescents with abdominal obesity after a multidisciplinary intervention.Patients, Material and Methods: we included 122 children and adolescents, range age: 7 to 16 years old, diagnosed with abdominal obesity (waist circumference > p90) who participated in an 8-week intervention program to lose weight, with a 2-year follow-up period. Participants were...

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...