ESPE Abstracts

Background: Pituitary insufficiency and severe obesity are common sequelae of craniopharyngioma and its treatment. Once weekly glucagon-like Peptide 1 (GLP1) analog’s semaglutide has recently shown efficacy in adults with common obesity.Objective: We evaluated the efficacy and safety of Semaglutide, a once-weekly GLP-1 analog, in 6 children with craniopharyngioma and morbid obesity.Subjects an...

Introduction: Severe insulin resistance due to insulin receptor mutation is usually diagnosed at the neonatal period (Donohue and Rabson-Medenhall syndromes), or later in a type A insulin resistance syndrome. We report here two cases of insulin receptor mutation whose presenting signs were less noticeable.Observation: A 13-year-old girl was referred for short stature (Height −2.5 SDS) with SGA (birth length 44.5 cm, at gestational age 41 weeks). Cl...

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...

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: Premature pubarche is the most frequent diagnosis when children present moderate pubic hair development, but other diagnosis must be ruled out. We report the case of a child with premature pubarche with hormonal results in the physiological range, corresponding to an adrenal tumor.Observation: A girl aged 6.8 years consulted for precocious pubertal development (pubic hair stage 3, breast stage 2), with moderate acne. There was no virilizati...

Background: The SCOPE French retrospective study follows children affected with growth hormone (GH) disorders treated with recombinant human GH (r-hGH) therapy via the easypod® connected injection device for up to 5 years.Aim: To show the results from an interim analysis of the SCOPE study analysing adherence to r-hGH therapy in a real-world setting and its effect on catch-up growth.Met...

Background: Wiedemann Steinert Syndrome (WSS) is characterized by distinctive facial features (hypertelorism, thick eyebrows, long philtrum, broad nasal bridge), growth retardation, and intellectual disability of varying degrees. Affected individuals are often born small for their gestational age and have generalized hypertrichosis. Some have growth hormone deficiency, usually partial with normal pituitary MRI. The disease is caused by autosomal dominant varia...

Background: Neonatal hyperinsulinism is the most frequent cause of neonatal recurrent hypoglycaemia. The persistent form can be explained by mutations of genes involved in beta cell function, whereas the transient form can occur in case of prematurity, low birth weight, macrosomia, perinatal hypoxia, and maternal diabetes.Objective and hypotheses: As we observed an increase in the incidence of neonatal hyperinsulinism, we hypothesized that potential mate...

Context: Alterations in semen characteristics and Sertoli and Leydig cell function have been described in obese male adults. Whether these alterations occur before adulthood has not been fully evaluated.Objective and Design: Cross sectional study from 2010 to 2018 describing gonadic function in overweight-obese (ow/ob) boys through childhood and adolescence.Setting: Monocentric study in the Pediatric Endocrinology ...

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...