ESPE Abstracts

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...

Introduction: Prolonged evolution of an untreated hypothyroidism can lead to thyrotropic cell hyperplasia, which could be indistinguishable from a pituitary macroadnoma on resonance. Differential diagnosis is very important since it allows to avoid aggressive therapeutic behaviors.Case report: We show a 3-year-old girl who, in the context of a study due to psychomotor retardation, borderline head circumference and coarse features, presented in magnetic r...

Context: Puberty timing is highly heritable. Recent genome-wide association studies, comparing timing of menarche in girls to timing of voice-break and facial hair in boys, revealed a largely overlapping genetic architecture of female and male pubertal timing. However, it is also known that genetic heterogeneity between sexes exists for some loci.Objectives: We hypothesized that self-reported relative parental pubertal t...

Introduction: Cryptorchidism has usually been managed using a surgical approach, with little attention to the underlying pathophysiology.Objectives: To assess gonadal function before treatment in prepubertal boys with cryptorchidism.Methods: In a cross-sectional study we reviewed all clinical charts of patients encoded with the diagnosis of cryptorchidism in the database of a paediatric tertiary hospital, between 2000 and 2017. Inc...

Background: Prevalence of childhood obesity (OB) represents a major public health concern, given the tracking of body weight from childhood to adult age and obesity-related morbidity.Objective: To describe prevalence of overweight (OW) and OB in children at 8 years and investigate relationship with metabolic alterations (lipid profile and insulin resistance).Methods: 485 pregnant mothers recruited between 2004-2007 and 409 children...

Background: Central precocious puberty (CPP) is uncommon before the age of 4 and treatment with GnRH analogues have shown unequivocal benefits. CPP during or near mini puberty entails differential clinical and biochemical features in the diagnosis and leads to longer treatment and follow-up. There are very limited studies with long-term outcomes about CPP girls exclusively < 4 years of age regarding growth, menarche, and adult height after GnRHa withdrawal....

Background: Childhood onset growth hormone deficiency (CO-GHD) may contribute to low bone mass and alterations of body composition. However, the mechanisms by which CO-GHD effects bone health are not yet clearly defined.Objective and hypotheses: To evaluate musculoskeletal health in CO-GHD subjects at initial evaluation and retesting after final height.Method: A cross-sectional study of assessing bone health and body composition by...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...

Background: Initiation and progression of puberty requires concerted action of activating and inhibiting factors. Recently, cases of central precocious puberty have been linked to loss-of-function mutations of makorin RING-finger protein 3 (MKRN3) indicating a pivotal inhibitory role of MKRN3 on GnRH secretion.Objective and hypotheses: To investigate peripubertal circulating MKRN3 levels in healthy boys.Method: Healthy boys (n<...

Introduction: it has been widely demonstrated that high physical activity (PA) levels prevent obesity development. The practice of moderate, regular PA reduces abdominal obesity, hypertension, insulin resistance, dyslipidemia and improves risk factors for obesity-related comorbidities (e.g. diabetes or cardiovascular diseases) independently of weight loss. However, in the childhood population, where sedentary behavior has increased in recent decades, few studi...