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...

hrp0095p1-181 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Monoallelic variants in Myelin Regulatory Factor (MYRF) associated with 46,XY DSD – two cases and first report of inheritance through parental mosaicism

Kaninde Abhidhamma , Chandran Harish , McCarthy Liam , Ghose Arun , Ellis David , Fulton Piers , Vogt Julie , Igbokwe Rebecca , Jeremy Kirk Jeremy , Mohammed Zainaba , Idkowiak Jan

Background: Haplo-insufficiency of the Myelin-Regulatory Factor (MYRF) gene causes cardiac-urogenital syndrome (CUGS) and Differences in Sexual Development (DSD) in 46,XY and 46,XX (OMIM #618280). The gene product, a transcription factor, is involved in development of Coelomic epithelium derived cells, and likely causative for DSD. To date, only a few MYRF de novo variants are reported in children with DSD and associated CUGS symptoms.<s...

hrp0092fc8.5 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

LGR4-Wnt β-Catenin Signalling Directs GnRH Network Development, with Defects Leading to Self-Limited Delayed Puberty

Mancini Alessandra , Howard Sasha R. , Cabrera Claudia P. , Barnes Michael R. , David Alessia , Wehkalampi Karoliina , Vassart Gilbert , Cariboni Anna , Garcia Marie Isabelle , Guasti Leonardo , Dunkel Leo

Background: The initiation of puberty is dependent upon an augmentation of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Development of the GnRH neuroendocrine network in embryonic life depends on coordinated migration of neurons from the vomeronasal organ in the nose to the forebrain. We have previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the ...