ESPE Abstracts

Introduction: NS is a relative frequent cause of short stature (ST) in pediatrics and its diagnosis is based on a combination of typical facial features, ST, chest wall defects, cardiac defects, developmental delay, cryptorchidism, lymphatic dysplasia, and family history (“Van Der Burgt Criteria”, revised 2007). Around 50% of NS patients presents a pathogenic variant in the PTPN11 gene. The overlap with other conditions, phenotypic changes...

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...

Background: Diabetes is associated with increased risk of vascular disease. In children and adolescents with type 1 diabetes (T1D), clinical manifestations of vascular complications are infrequent; however, a pro-inflammatory state and endothelial disturbance could appear early. A subclinical inflammation state result in increased plasma levels of adhesion molecules, inflammatory cytokines as tumor necrosis factor alpha (TNFα), and acute phase proteins as C-reactive prote...

Introduction: Children with Small for Gestational Age (SGA) are known to have lower neurocognitive development and an increased in cardiovascular risk in adulthood. 10% of SGA don´t usually do the catch-up and if they meet criteria they have indication to follow Growth Hormone (GH) treatment.Objectives: To establish the difference between SGA diagnosed children who did or did not catch-up (treated with GH), in terms...

Background: Small-for-gestational-age (SGA) newborn infants (NB) may present long-term comorbidities influencing their metabolism, growth and/or development. Although their serum proteome is unknown, altered expression of the proteome profile may provide information on their physiopathology and lead to the discovery of biomarkers for postnatal complications.Aim: To detect changes in the serum proteome in SGA-NB vs adequate-for-gestational-age (AGA) newbo...

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...

Introduction: Obesity is associated with comorbidities such as hypertension (HTN), and other alterations in blood pressure (BP) such as: masked hypertension and alterations in the circadian cycle variability, that only can be detect through ambulatory blood pressure monitoring (ABPM).A higher prevalence of masked hypertension has been reported in obese subjects, up to 4.3%. Also a loss in drop from mean daytime to mean night-time lev...

Uncontrolled diabetes mellitus is a disease with a wide range of systemic complications. Eye complications may seriously threaten quality of life. Diabetic retinopathy is the most frequent diabetic ocular complication. However, diabetic capilaropathy is a little known condition of diabetic retinopathy. It is an acute optic disc edema and/or macular edema; due to an acute hyperglycaemia.Method: We present a case of a diabetic 14-years-old female with diab...

Introduction: Glucagon-like peptide 1 (GLP-1) receptor agonists have been successfully used in adults with hypothalamic obesity, showing a BMI decrease and metabolic profile improvement. Data on GLP-1 receptor agonist treatment for children and adolescents is limited. Herein, we present a clinical case of a male adolescent treated with GLP-1 receptor agonist for hypothalamic obesity, secondary to craniopharyngioma.Case report: A 15.8 year-old boy (Height...

Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay. They can also present escoliosis, heart or genitourinary disease, seizures, hypotonia, cerebral malformations, feeding difficulties, hearing loss and a greater risk of tumours.Case report: A 10 months old girl was referred for overgrowth. BW and BL wa...