ESPE Abstracts

Introduction: Precocious pubarche (PP) is characterized by the early development of pubic hair and clitoral enlargement in girls. While commonly attributed to adrenal-related causes, such as congenital adrenal hyperplasia or adrenal tumors, ovarian sources are infrequent etiologies. In this report, we present a clinical case of a young girl with PP due to a rare source.Case Report: A 1.7-year-old girl presented with the ...

Introduction: Inactivity in children is associated with cardiometabolic risk, while physical activity improves cardiometabolic health. We aimed to determine the association between epicardial fat (Efat), interventricular septal and left ventricular posterior wall thicknesses (IVSthickness and LVPWthickness) with physical activity/inactivity, non-sedentary/sedentary behavior, body composition, and cardio-metabolic parameters in children classified as being: ina...

Introduction: The results of the phase III clinical trial that evaluated the efficacy and safety of the biosimilar recombinant human GH - rhGH - (Omnitrope®, Sandoz) on the treatment of Spanish children with GH deficiency were published in 2011. At the end of the study those patients that were still growing remained on treatment within the usual clinical practice.Objective: To know the values of adult height of the children who participat...

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...

Introduction: Identifying the nutritional diagnosis of adolescents is crucial for developing public health strategies that promote the adequate development of this population.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2021.Methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The preval...

Introduction: The Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline mutations in WT1 have been classically associated with Denys–Drash (DDS) and Frasier syndrome (FS). Exonic missense mutations in the zinc-finger region are the cause of DDS and mutations affecting the canonic donor KTS splice site of intron 9 are the cause of FS. New phenotypes, as 46,XX testicular DSD...

Introduction: Differences of sex development (DSD) encompass a variety of conditions with atypical development of chromosomal, gonadal or anatomic sex. 46, XX ovotesticular (OT) DSD is a rare condition, in which the presence of testicular and ovarian tissues is identified in the same individual. These patients present variable phenotypes with a wide spectrum of atypical genitalia and their sex assignment can be male or female. Short stature is a frequent issue...

Objective: To determine the prevalence of congenital hypothyroidism (CH) in children with dry bloodspot TSH (b-TSH) between 5 and 10 mIU/l in neonatal screening and evaluate their thyroid function evolution.Methods: Retrospective study of thyroid function in children born from 2003 to 2010 with b-TSH between 5 and 10 mIU/l who were put on treatment in the first two years of life due to serum TSH≥10 mIU/l. The prevalence of CH ...

Introduction: About 15% of children born small for gestational age (SGA) do not reach final height within normal range. Recombinant human growth Hormone (rhGH) has shown to be effective in catching up growth velocity and height in children born SGA.The objective of our study is to identify the predictive factors of final height in children born SGA treated with rhGH.Materials and Methods: Monocentric, retrospective s...

Introduction: The Body Mass Index (BMI) is an essential indicator for the nutritional assessment of children and reflects the exposure to health conditions that are harmful to the development of this population.Objective: To analyze the temporal trend of the BMI of Brazilian children, 0 to < 10 years old from 2010 to 2021.Methods: Descriptive ecological study. Data obtained from...