ESPE Abstracts

Introduction: Generally, patients with X-linked hypophosphatemic rickets (XLH) experience normal puberty. However, they can be affected by metabolic and environmental factors that may predispose them to central precocious puberty (CPP) and impair their predicted final height, similar to the general population.Case Report: A female patient was diagnosed with XLH at three and received regular treatment with calcitriol and ...

Background: Children’s exposure to stress predicts poor health. Poor growth and maturation are recognized indicators of poor health.Objective and hypotheses: SE correlates with height, BMI and menarche. We correlated seven indicators of SE with countries’ average adult height, BMI and menarche age.Method: Data for 57 countries of average men and women’s height, BMI and menarche age were collected from WHO report. The...

Introduction: The low-dose synacthen test (LDT) is widely used to assess central adrenal insufficiency (CAI); however, the total serum cortisol (C) cut-off value is controversial. A correct diagnosis of CAI is required, but overdiagnosis may lead to unnecessary hormone replacement therapy. Salivary cortisol (SC) reflects the levels of free serum cortisol and is a noninvasive alternative.Objective: To define a new cut-off value of serum cortisol in pediat...

Introduction: Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, regulates several genes involved in male sexual determination, such as SOX9 and AMH, cholesterol mobilization and synthesis of a number of steroidogenic enzymes, like 3βHSD, and androgen biosynthesis, like INSL3. Mutations in NR5A1 have been associated to a broad phenotypic spectrum in 46, XY subjects, including pure gonadal dysgenesis, infertility, anorchia...

Background: Antithyroid drugs (ATD) are recommended as the initial treatment in Graves disease in childhood and adolescence. Identification of predictive factors might lead to improve patient management by facilitating the identification of patients requiring long-term ATD or early alternative therapy.Objective and hypotheses: To assess the prevalence of signs and symptoms of hyperthyroidism in childhood and adolescence, to evaluate the rates of adverse ...

Background: Isolated growth hormone deficiency is the most common pituitary hormone deficiency, although the majority of cases are idiopathic. The presence of pituitary structural abnormalities may influence growth hormone (GH) deficiency severeness.Objective: Assess the effect of pituitary abnormalities in idiopathic isolated growth hormone deficiency (IIGHD).Methods: We analysed 65 children with IIGHD and pituitary magnetic resso...

Background: Besides surgery, radioactive iodine therapy (RAI) is an effective and safe option to treat children with hyperthyroidism from Graves disease (GD) who cannot achieve euthyroidism with antithyroid drugs.Objective and hypotheses: To present the experience of a Portuguese paediatric unit with the use of RAI in children with GD.Method: The authors performed a review of 7 cases of Graves disease of age under 18 years treated ...

Background: Newborn (NB) screening programs show a wide variation in congenital hypothyroidism (CH) incidence along the years.Objective and hypotheses: To describe CH incidence, etiology, associated malformations and Down Syndrome (DS) in children detected by our NB Screening Program. To search differences between permanent CH (PCH) and transient forms (TCH).Method: We analyzed NB with positive screening results referred between A...

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...

Lockdown and school closure related to COVID-19 pandemic increased sedentary time and greater consumption of ultra-processed foods, an environment that may exacerbate the childhood obesity epidemic. In Brazil, public schools remained closed for more than 40 weeks. In Brazil, prior to the current pandemic, 15.9% of children under 5 yr.-old, 29.3% of those between 5 and 9 yr.-old and 30.8% of adolescents were overweight. Aims: To verify the impact of school closure on the weight...