ESPE Abstracts

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with an increased metabolic risk have arisen. This risk may depend on ethnic background and infancy weight gain, which could be different by gender.Objective and hypotheses: To determine whether PA in children at pubertal onset (TII) determines a higher metabolic profile.Methods: 1190 children (49.9% female) from the longitudinal co...

Background and Aims: Coats plus syndrome (MIM # 612199) is a highly pleiotropic disorder particularly affecting brain, eye, bone and gastrointestinal tract. We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene.Patient and Methods: The patient, the fourth child of healthy non-consanguineous parents, was born...

Background: Age at onset of puberty exhibits a remarkable variation mirroring nutritional, environmental, socioeconomic and genetic factors. While large genome-wide association studies identified more than hundred genetic loci associated with age at menarche in girls, knowledge on loci associated with age at pubertal onset in boys is sparse. FSHB/FSHR genetic variants have been shown to affect pubertal timing in girls and reproductive parameters in men.<p class="a...

Objective: To evaluate the impact of gestational age and birthweight on dehydroepiandrosterone and dehydroepiandrosterone-sulfate (DHEA and DHEA-S) in children born very preterm (VPT) appropriate for gestational age (GA) compared to children born at term (T).Methods: We recorded anthropometric parameters in 72 VPT (<32 GA) and 41 T (≥ 38 GA) aged 5.0–8.5 years. Birthweight standard deviation scores (BW-SDS) were calculated using INTERGROWT...

Background: The prevalence of childhood obesity is increasing worldwide and Glucagon-like peptide 1 analogs have emerged as a new tool for its management. To date, Liraglutide has been approved for the treatment of obesity in adolescents over 12 years of age by the FDA & EMEA and in Chile (July 2021).Objectives: evaluate the % decrease in BMI SDS and total body fat percentage in adolescents with obesity who received ...

Introduction: During last years there is an increasing number of referrals because of gender incongruence worldwide. In Argentina, in 2012, a gender identity law was sanctioned, stablishing the right of gender reassignment during childhood, adolescence, youth and adulthood, without the need of previous medical and/or mental health evaluation. This was followed by a great number of referrals. There is scarce literature regarding longterm outcome in transgender persons who start...

Background: Children with congenital heart disease (CHD) are predisposed to growth failure, due to the decreased intake of nutrients and also due to the increased energy requirements. Growth failure represents a frequent cause of increase of both morbidity and mortality in children with CHD.Objective and hypotheses: Assessment of physical development in children with CHD and identification of significant factors that influence z scores.<p class="abst...

Background: Congenital hypothyroidism (CH) is a treatable thyroid hormone deficiency that causes intellectual disabilities and growth deficiency if not detected and treated early.Material and Methods: We retrospectively analyzed the medical records of 22 patients, 13 (59%) females and 9 (41%) males, with positive CH screening at birth and confirmed by TSH & FT4 serum concentrations measurements, thyroid ultrasound an...

Introduction: X-linked hypophosphatemia (XLH), due to PHEX mutation, is the most common genetic form of rickets in children. This rare disease is characterized by decreased tubular reabsorption and increased renal loss of phosphorus due to increased FGF-23 levels. In children, XLH is often manifested by short stature, rickets and bowel limbs deformity. Conventional treatment with oral phosphorus salts and calcitriol is not always well tolerated which has a pro...

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.Method: Thirty-...