hrp0084p3-773 | Diabetes | ESPE2015

Mauriac Syndrome, a Rare Complication of Type 1 Diabetes Mellitus

Rivero-Martin Maria Jose , Perez-Segura M Pilar , Alcazar-Villar Maria Jose , Montes-Bentura David , Milian M Eugenia Oros

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...

hrp0084p3-964 | GH & IGF | ESPE2015

Evaluation of the Facility of Use of a New GH Administration Device – Study DAGH2014

Rivero-Martin Maria Jose , Ontanon-Nasarre Ana , Alcazar-Villar Maria Jose , Carrasco-Torrents America , Andres-Rosado Ana , Montes-Bentura David

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...

hrp0094p2-182 | Fat, metabolism and obesity | ESPE2021

Describing the Natural History of Clinical, Biochemical and Radiological outcomes of children with Familial Partial Lipodystrophy type 2 (FPLD2) attending a National Service for Severe Insulin Resistance: a Retrospective Cohort Study

Xuan Zhong Zhu , Stears Anna , Harris Julie , Wilber Ellen , Savage David , O’Rahilly Stephen , Williams Rachel ,

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...

hrp0098t10 | Top 20 Posters | ESPE2024

Phenotypic and genotypic characterization and long-term follow-up of patients with thyroid hormone resistance

Van der Auwera Tessa , Breckpot Jeroen , Unuane David , Nauwynck Elise , Van Crombrugge Paul , Decallonne Brigitte , Rochtus Anne

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...

hrp0098p1-307 | Late Breaking 2 | ESPE2024

The man in the LOOP: Ramadan fast in Type 1 diabetic patients with a Closed Loop automated insulin delivery system

Abraham Schuldenfrei Yonatan , Sharaf Al-Hayek Narmeen , Cohen Amitay , Eliyahu Mendelsohn Espen , Abu Libdeh Abedelsalam , Lavi Eran , Zangen David

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...

hrp0098p2-86 | Diabetes and Insulin | ESPE2024

Endotypes in diabetes, different diabetes, different management?

Valls Aina , David Perna-Barrull , Laia Gómez-Muñoz , Paula Sol Ventura , Marta Vives-Pi , Murillo Marta

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...

hrp0098p2-250 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Ovotesticular DSD at Mother and Child Center in Cameroon: clinical and biomolecular aspects

Sap Suzanne , Carole Mbono Betoko Ritha , Moifo Boniface , Tony Jocelyn , Bodieu Adele , Mouafo Faustin , Mallet Delphine , Plotton Ingrid , Chelo David

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...

hrp0098p2-396 | Late Breaking | ESPE2024

Study of Novel Genetic Etiologies for Ovarian Dysgenesis reveals high prevalence of pathogenic variants in DNA damage response genes.

Florsheim Natan , Cohen Amitay , Abu-Libdeh Abdulsalam , Naugolni Larisa , Landau Zohar , Mendelson Espen , Renbaum Paul , Levy-Lahad Ephrat , Zangen David

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...

hrp0095fc8.2 | Diabetes and Insulin | ESPE2022

Detection of anti-islet antibodies in capillary blood by the antibody detection by agglutination-PCR (ADAP) technology is sensitive and suitable for general population screening programs

Oron Tal , de Jesus Cortez Felipe , Shtaif Biana , Robinson Peter V. , Yackobovitch-Gavan Michal , Seftel David , Phillip Moshe , Tsai Cheng-ting , Gat-Yablonsky Galia

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 ...

hrp0095rfc11.5 | Late Breaking | ESPE2022

Dasiglucagon Treatment Over 21 days in Infants with Congenital Hyperinsulinism Results in Glycaemic Stability and Reduces Requirement for Intravenous Glucose

Banerjee Indraneel , D. De Leon Diva , M. Kendall David , Birch Sune , Bøge Eva , Ivkovic Jelena , S Thornton Paul , Nurdan Ciftci , Huseyin Demirbilek

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...