ESPE Abstracts

Background: Mauriac syndrome (MS) classically involves hepatomegaly (hepatic glycogenosis), growth impairment and cushingoid features in a patient with poorly controlled type 1 diabetes mellitus (T1DM). The typical age of presentation is adolescence. With the advent of improved insulin regimens, MS has seen less frequently. However, new cases appear each year in medical literature.Clinical case: We report the case of a 9 years and 9 months of age male, w...

Background: One of the limiting factors in adherence to GH therapy, is satisfaction with the administration device used.Objective and hypotheses: With the emergence of a new biosmiliar GH (BGH) administration device, we will assess the simplicity, ease of use, management and pain perceived by the patients.Method: Prospective through survey caregivers and children treated with BGH at least for 6 months. Signed informed consent was r...

Background: FPLD2 results from autosomal dominant mutations in the LMNA gene. The physical appearance develops through adolescence where subcutaneous fat deposits of the limbs, trunk, buttocks and legs do not develop resulting in a muscular appearance. The metabolic phenotype includes elevations in triglyceride concentrations and hepatosteatosis with resultant insulin resistance. Co-morbidities that may manifest during young adulthood include early-onset diabe...

Background: Resistance to thyroid hormone (RTHβ) is a rare disease caused by an inactivating mutation in the thyroid hormone receptor beta gene (THRB). This condition leads to elevated thyroid hormone levels with non-suppressed TSH levels. The clinical phenotype is highly variable, ranging from asymptomatic to signs of hyperthyroidism and/or hypothyroidism. This study analysed the genotype and phenotype of paediatric and adult patients followed in three B...

Background: Fasting during Ramadan, starting daily before sunrise and ending at sunset, with traditional rich meals at "Sohoor" (pre-dawn) and "Fotoor" (evening break of fast). is common among Muslims from 8 years of age. Recent use of the closed loop automated insulin delivery system (CLAIDS) including insulin pump and glucose sensor has become staple treatment of type 1 diabetes (T1D) patients and reported to safely manage glucose fluctua...

Introduction: Type 1 diabetes (T1D) is due to decreased insulin production due to autoimmune destruction of β cells. There is an increase in the diagnosis of T1D in young patients with poor pancreatic reserve due to greater destruction of β cells and more complex evolution.Objectives: To classify patients into different Endotypes based on age, characteristics at onset, and progression one year later.<p clas...

Introduction: Variation of sex development are rare diseases with diverse aetiologies. Ovotesticular diseases are not well described in Sub Saharan countries, justifying the present study with aimto draw the clinical and biomolecular aspects in a paediatric center.Methods: We did an observational study of patients followed in the Mother and child center of the Yaounde. Ovo testicular DSD was diagnosed on clinical, morpho...

Background: Ovarian Dysgenesis (OD) is a rare genetically heterogeneous XX Disorder of Sex Development. It presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel genetic causes of OD, we are investigating families with one or more patients diagnosed with OD.Methods: Using a patient-based approach, WES was per...

Background: Detection of type 1 diabetes (T1D) at the pre-clinical stage is possible by detecting islet autoantibodies (IA) years before the appearance of symptomatic diabetes. An efficient screening program based on these antibodies will identify children at risk of developing diabetes during childhood. The antibody detection Israeli research (ADIR) is a general population screening program in Israel searching for children with multiple IA who are at risk of ...

Background: Congenital hyperinsulinism (CHI) is a chronic and complex rare endocrinopathy with dysregulated insulin secretion causing severe and recurrent hypoglycemia resulting in adverse neurologic and developmental sequelae in children. Current treatment options are limited and often inadequate to treat CHI. Dasiglucagon (DASI), a glucagon analog administered by subcutaneous continuous infusion, has demonstrated reduction in glucose infusion rate (GIR) in P...