ESPE Abstracts

Background: In pediatric patients multiple pituitary hormone deficiency (MPHD) can be caused by mutations in pituitary-specific transcription factors. Among those, mutations in PROP1 gene account for ~50% of genetically determined cases of CPHD. Regarding morphology, the anterior pituitary can be normal, hypo-/aplastic or enlarged.Results: We present two unrelated patients referred for evaluation of growth retardation. Both had profound growth retardatio...

Introduction: Morphological characteristics of the glucose concentration curve during an oral glucose tolerance test (OGTT) may reflect differences in insulin secretion and sensitivity. Whether the shape of the glucose curve and time to peak glucose concentration can be used as indicators of beta cell function and markers of type 2 diabetes risk in obese adolecents is still uncertain.Aims/hypothesis: The purpose of this cross-sectional study was to asses...

Background: Laboratory evaluation is crucial for accurate assessment of patients with endocrine disorders. When clinical picture is in obvious contradiction with laboratory results, one should suspect and prove analytical interference.Case presentation: a 6.7-year-old girl presented with sexual and axillary hair accompanied by adult-type body odor. She was tall (height SDS 2.6), with no other signs of virilisation and no...

Introduction: The 46,XX testicular disorder of sex development (DSD) is a rare genetic condition and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients, but approximately 20% of patients are SRY-negative. We report a 1.3 -year old SRY/negative 46,XX boy with complete sex reversal caused by SOX3 duplication.Case report:...

Introduction: The increasing prevalence of obesity has become a major global health issue. Clustering of cardiometabolic risk factors in obese adolescents is associated with reduced life expectancy and impaired quality of life. Due to serious impact of obesity on cardiometabolic health, effective treatment strategies are intensively sought after.Objectives: The aim of this retrospective cross-sectional study was to exami...

Background: Pituitary apoplexy (PA) is a rare clinical emergency in pediatric population. In patients with apoplexy-like symptoms, clinical and imaging features of PA, caused by hemorrhage in a pre-existing macroadenoma, are sometimes difficult to distinguish from Rathke cleft cyst (RCC).Case presentation: A 14.5-year-old boy, with an uneventful past medical history except for mild COVID-19 infection six months earlier, ...

Introduction: Le diabète de type 1 est l’endocrinopathie la plus fréquente chez l’enfant. Son incidence est en nette progression dans le monde. L’enfant diabétique nécessite une hygiène de vie adaptée et le suivi par une équipe pluridisciplinaire composée de pédiatre spécialiste en diabétologie, psychologue, diététicien, infirmier spécialisé.Objectif: Determiner les...

Background: Idiopathic isolated hypoparathyroidism is rare in children. Most often aetiology is autoimmune or genetic.Objective and hypotheses: To sequence eleven genes (AIRE, CASR, GATA3, GCM2, PCLN1, PTH, TBCE, TRPM6, GNAS, PRKAR1A, PDE4D) associated with hypoparathyroidism in a child with isolated hypoparathyroidism (IHPT) in order to find a specific gene alteration in IHPT.Method: We systematically sequenced the 11 gen...

Background: Childhood brain tumour survivors are at risk of developing endocrine secondary effects throughout lifetime. Transition between childhood and adult care is a critical moment during which patients may stop medical visits and treatments.Objective: To describe endocrine care transition in our cohort of patients with primary brain tumors followed from 2010-2015, who are ≥=18 years old by December 31st</...

Background: Hematopoietic stem cell transplantation (HSCT) recipients exhibit excess adiposity that may result in an increased metabolic risk. Studies have shown that BMI is a poor predictor of body fatness in pediatric HSCT survivors population where diminished lean mass has been documented. The visceral adiposity index (VAI) has recently been proposed as a predictor of cardio-metabolic risk in both adults and children. However, the predictive value of this i...