ESPE Abstracts

Background: Twenty-three national healthcare networks for rare diseases were identified in 2014 as part of the French scheme on rare diseases. The rare endocrine disease national healthcare network FIRENDO (www.firendo.fr) includes six centers of reference with complementary fields of expertise certified between 2005 and 2006, 30 centers of competence covering all French regions, 18 research and 37 diagnostic laboratories, 5 national learned...

Objective: Young women with Turner syndrome are known to be especially at risk for lost of follow-up. Recent literature indicates that there are disparities regarding transition readiness between different chronic conditions. To assess differences in transition readiness might be crucial for identifying special needs in specific patient cohorts when preparing for transfer to adult care. Our hypothesis was, that young women with Turner syndrome would score lowe...

Background: A one-month-old girl was referred to our unit for osteogenesis imperfecta (OI). She was the first child of non consanguineous parents. The father had no history of fracture. The mother, 28 years-old, presented with a severe OI, short adult height (140 cm), moderate scoliosis. She had more than 20 limb fractures, no vertebral fracture and bowing limbs without need of surgery. She received Bisphosphonates during 3 years until 12 years of age. Then sh...

Case description: A 14-year old boy with autoimmune hepatitis who was on long term oral steroids for 10 years, presented with acute onset lower back pain without preceding trauma. Lumbar spine radiograph showed severe osteopenia and compression fractures of vertebrae T12 to L1. Bone mineral density T-score at the lumbar region was −4.9. Biochemically, there was hypocalcaemia and severe hypophosphataemia with adjusted calcium 2.03 (2.20–2.65) mmol/l and phosphate 0.8...

Background: Development of cystic fibrosis–related diabetes (CFRD) is associated with worse pulmonary function, poorer nutritional status, more chest infections and increased mortality. In cystic fibrosis (CF) patients, abnormality of the 1 hour glucose during Glucose Tolerance test (GTT) is reported to be a better predictor of early CFRD and is associated with decline in pulmonary function compared to the 2-hour glucose level during GTT. We report a case series of 4 pati...

Objective: To assess the characteristics of thyroid nodules among infants diagnosed with congenital hypothyroidism and to discuss the interest of a systematic screening.Material and method: A retrospective study of children with congenital hypothyroidism due to dyshormonogenesis was carried out at the pediatric endocrine center in Kremlin Bicêtre hospital, Paris, between 1999 to 2020. A screening ultrasound for thyroid nodules was t...

Background: Proprotein convertase subtilisin/kexin types 1 and 2 (PCSK1 and PCSK2) are expressed in neuroendocrine tissues where they cleave a subset of inactive prohormones into biologically active hormones, including pro-opiomelanocortin (POMC), proTRH, proinsulin, proglucagon, and proGnRH. Congenital deficiency of PCSK1 is a very rare syndrome causing malabsorptive diarrhea contrasting with severe early-onset obesity and hypopituitarism. We described here a new case of cong...

Introduction: The French Reference Centre PRADORT set up a national Access® database in 2005 for children diagnosed with Prader-Willi Syndrome (PWS). The medical, socio-demographic and family data of 813 patients were then collected.Method: We aim to analyse the evolution of diagnosis and care over time, according to the birth year of patients by comparing 3 groups (patients born between 2005 to 2009, 2010 to 2014 an...

Background: Improved patient and graft survival post-liver transplantation has led to a parallel increase in metabolic syndrome (MS) reported in multiple centres. We aimed to study the prevalence and risk factors of metabolic complications in our paediatric liver transplant (LT) cohort.Methods: This was a retrospective review of the LT database from 1995-2018. We studied the incidence of overweight, obesity (WHO BMI crit...

Introduction: In obese boys, alteration of Sertoli and Leydig cell functions have been described, but potential reversibility of these alterations after weight loss during childhood has not been fully evaluated.Objective: Evaluate the impact of weight loss on gonadic function in obese boys.Setting: Monocentric study in the Pediatric Endocrinology Unit of Angers University Hospital ant its follow-up...