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: Partial androgen insensitivity syndrome (PAIS) covers a large spectrum of phenotypes, with the common denominator being insufficient virilisation of the external genitalia in an XY child with normal testosterone (T) production. Genetic diagnosis of PAIS is based on the identification of an androgen receptor (AR) gene mutation.Aim: The aim of this work was to determine whether the PAIS-like phenotype is associated with other gene mutations.</p...

Background: The clinical diagnosis of partial androgen insensitivity syndrome (PAIS) should be systematically considered for all 46,XY newborns/infants with undervirilisation contrasting with normal/elevated plasma testosterone levels. Confirmation of PAIS is based on the identification of an androgen receptor (AR) gene mutation.Aim: This work was undertaken to determine whether the minor forms of undervirilisation such as isolated hypospadias, isolated ...

Background: Pubertal gynecomastia is observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1–2 years, although sometimes pubertal gynecomastia persists.Case presentation and methods: We investigated three adolescent males with isolated persistent pubertal gynecomastia: twin brothers and an unrelated adolescent boy. The twins (17 years) had normal male external genitalia. Biological testing showed normal test...

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...