ESPE Abstracts

Objective of the research: To compare clinical laboratory and genitometric parameters in girls with hypogonadotropic hypogonadism (HH) and constitutional delayed puberty (CDP).Materials and Methods: 23 female patients with delayed puberty are included in the study.Inclusion criteria: Absence of secondary sexual characteristics at age ≥13 years or absence of menarche at age ≥1...

Background: The classical presentation of type 1 diabetes mellitus is as diabetic ketoacidosis. As health awareness and access to healthcare improves, more subjects with type 1 diabetes are diagnosed early and present with less severe forms of hyperglycaemia. India accounts for most of the children with type 1 diabetes in South East Asia, but studies on the initial presentation is lacking from India.Objective and hypotheses: The aim of the study was to a...

Background: There is little information on growth and fractures in boys with Duchenne Muscular Dystrophy (DMD).Objective & hypotheses: To determine the extent of growth & skeletal morbidity in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were analysed following categorisation into five age groups: A:<5 years (n, ...

Background: Congenital adrenal hyperplasia (CAH) due to a CYP21A2 defect (autosomal recessive) leads to salt wasting (SW), simple virilizing (SV), or non-classical (NC) phenotypes basically depending on residual 21-hydroxylase (21-OH) function on the least affected allele.Objective and Hypotheses: To test prediction of CAH phenotype based on genotype classification.Method: Patient data from 37 centers were retrieved from a...

Background: The pathophysiology of type 2 diabetes mellitus (T2DM) is based on defective insulin secretion by pancreatic β-cells and the inability of insulin-sensitive tissues to respond appropriately to insulin. Young people have a more aggressive course of the disease. However, the impact and sequence of pathological mechanisms involved in the development of T2DM in adolescents hasn’t been established. Diagnosis of the prediabetes in time can be u...

Objective: Most recent evidence from conducted in human and animal studies suggests that vitamin D has a potential role in the physiology of reproductive function in both genders. We investigate the role of vitamin D in male and female gonadal function at mini-puberty period with particular emphasis on production of sex steroids and gonadal peptide hormones. Additionaly, this study evaluated serum levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradio...

Background: Several studies observed a positive secular trend for the occurrence of earlier puberty. Genetic background, weight gain, and environmental factors are assumed as contributors. In March 2020, WHO declared a worldwide pandemic of COVID-19. To reduce transmission, Germany and many other countries imposed regulations of social distancing and lockdowns leading to significant changes in daily life for children followed by an increase in obesity but also...

Background: Steroidogenic factor 1 (encoded by the NR5A1 gene) is a transcriptional regulator of genes involved in gonadal development and steroidogenesis. Mutations in NR5A1 are associated with a wide phenotypic spectrum in 46,XY individuals ranging from partial/complete gonadal dysgenesis or anorchia, ambiguous genitalia, hypospadias, to infertility. However, little is known about the longitudinal course of endocrine markers for Sertoli and Leydig cell func...

Background: Children affected by cerebral palsy (CP) could experience central precocious puberty (CPP) 20 times more than general population. Nevertheless, the treatment is challenging.Objective and hypotheses: To compare CPP features and the effects of gonadotropin-releasing hormone agonist therapy (GnRHa) in children with CP and in controls.Method: The study involved 16 children with CPP and CP (median age (range) at diagnosis of...

Thyrotoxicosis refers to a hypermetabolic state that results in excessive amounts of circulating thyroid hormone. Pediatric patients retain significant thymic tissue that regresses only later in life. This thymic tissue can develop significant hyperplasia during an acute autoimmune process. We describe a case of a 14-year-old girl who presented with dysphonia secondary to severe Graves' disease and a 1-month history of goiter, anxiety, restlessness, and tremor. A 99 mTc t...