ESPE Abstracts

Puberty is a crucial biological process normally occurring at a specific time during the lifespan, during which sexual and somatic maturation are completed, and reproductive capacity is reached. Pubertal timing is not only determined by genetics, but also by endogenous and environmental cues, including nutritional and metabolic signals. During the last decade, we have learned much regarding the essential roles of kisspeptins and the neuropeptide pathways that converge on these...

For the brain tumor committee of SFCE (Société Française des Cancers de l’Enfant).Objective: Therapeutic approach favors chemotherapy as the first-line-treatment in progressing OPG. There are few data on long term endocrine outcomes of aggressive OPG treated by upfront chemotherapy. Our main objective was to describe the long-term endocrine sequelae in these patients and to identify potential early predictors of the endocrine involvem...

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

The deficit of lysosomal acid lipase (LAL) is an infrequent (1: 40,000–300,000 prevalence), autosomal recessive, monogenic pathology. It can aggressively (Wolman’s disease): malabsorption and severe dyslipidemia with survival less than one year of life. The cholesterol ester storage disease (CESD) presents with dyslipidemia, liver disease and early cardiovascular disease.Goals: Descriptive study of the prevalence of LAL deficiency and carriers ...

Today we have an increase in patients with early-ahead forecast pubarche with impaired bone carving for advancement but organicidad criteria (HSC) but if dysfunction or adrenal hyperandrogenism and/or ovarian There are several anti-androgen drugs, all without usual pediatric use (use ‘of label’). Low-dose flutamide 62.5 mgr/day has been postulated as a treatment in these cases, but its use is restricted due to the risk of side effects (gynecomastia and liver involvem...

It is known that more checks of blood glucose, metabolic control of patients with type 1 suffering Dm improvement. Improved technology has made it possible to develop devices interstitial glucose control both blinded (retrospective) and open (in real time). The FREE STYLE free device is the latest appearance on the Spanish/European market. Although initially not seem indicated in <18 th, these are the a priori more could benefit from an improvement of metabolic control.</p...

Introduction: Bone fragility or predisposition to fractures with low-impact energy is a rare but potentially limiting condition. Variations in PLS3 gene are a cause of monogenic osteoporosis due to the alteration of osteoclast and osteocyte function and bone mineralization. It is characterized by early-onset osteoporosis, peripheral fractures, vertebral compression fractures and thoracic kyphosis. Due to its X-linked inheritance, the phenotype is more severe i...

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...

Background: Patients born small for gestational age (SGA) with additional syndromic features to short stature are likely to present with genetic causes.Aim: To perform a clinical and genetic-molecular investigation of a group of syndromic SGA patients without catch-up growth.Methods: We selected 118 patients born SGA [birth weight and/or length standard deviation score (SDS) ≤−2 for gestational age] without catch-up gro...