ESPE Abstracts

Introduction: Adequate nutritional status of adolescents is essential for their healthy development, with health repercussions in both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The BMI cat...

Introduction: The good nutritional status of children in the first years of life is essential for their healthy growth and development. Evaluating the repercussions of nutritional status is fundamental since nutrition can influence both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian children aged 0 to 5 between 2010 and 2022.Patients and methods:...

Background: Several genetic defects (GHR, SHOX, GHSR, NPR2, IGFALS) have been reported in children classified as ISS. ISS children are GH sufficient and about one third of them show low IGF-I levels, suggesting some degree of GH insensitivity.Objective: To explore potential genetic defects in ISS children suspicious of GH insensitivity, selected by low IGF-I levels and low response to IGF generation test.<...

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...

Introduction: 46, XY DSD leave lifelong implications on parents and patients. Documented scientific literature on children with 46, XY DSD is scares in Sri Lanka. This study assesses the psychosocial wellbeing of parents and the quality of life in children with 46 XY DSD.Objective: To assess the psychosocial wellbeing of parents and the quality of life in children with 46, XY DSD attending the endocrine clinics at Lady R...

Background: Patients with Klinefelter syndrome (KS) have an increased risk for osteoporosis and fractures in adulthood. Data on bone mineralization in adolescence are limited, although it is a known at-risk period for vitamin D deficiency, low calcium intake and evolving hypogonadism.Objective and hypotheses: To study the bone mineralization in KS adolescents and its relationship with vitamin D/calcium and gonadal status. KS adolescents with low calcium ...

Background: Both The Endocrine Society and the World Professional Association for Transgender Health (WPATH) published guidelines for the treatment of children and adolescents with gender dysphoria (GD). The guidelines recommend the use of GnRH agonists in adolescence to suppress puberty, and the use of cross-sex hormones starting around age 16 for eligible patients. In actual practice, there is no consensus whether to use these early medical interventions. The aim of our stud...

Background: Virilization of young children after topical androgen use by their fathers through skin contact is well-known. The long-term consequences of such exposure at very young age are not well known.Objective and hypotheses: The aim is to report the occurrence of spermarche in a young boy and central precocious puberty in a young girl as late consequences of interpersonal transfer of testosterone gel.Method: Testosterone conta...

Background: IGF1 is essential for pre and postnatal growth. Mutations in IGF1 receptor (IGF1R) gene have been described in patients with intrauterine growth retardation and other anomalies.Objective and hypotheses: To study IGF1R gene in small for gestational age (SGA) patients with short stature and correlate the results with clinical presentation and response to rhGH treatment.Method: Longitudinal retrospective study of 69 SGA pa...

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...