ESPE Abstracts

Background: Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity but there is no data for Turkish children.Objective: To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents.Method: MC4R gene was sequenced in 47 consecutive morbidly obese children and adolescents (28 girls and 19 boys, aged 1–18 years) who presented dur...

Background: DEAH-box protein DHX37, encodes an RNA helicase, is involved in ribosome biogenesis. Monoallelic mutations in DHX37 gene have recently been identified in 46,XY differences/disorders of sex development (DSD) patients with nonsyndromic gonadal dysgenesis as well as testicular regression, while biallelic mutations have been associated with microcephaly and structural brain abnormalities. Here, we present a patient with penoscrotal hypospadias and bil...

The impact of DSD on future fertility is dependent on several factors. The key determinant of fertility potential is the status of gonadal development and function, and whether the individual has ovarian tissue with viable oocytes, or testicular tissue capable of producing functional sperm. Fertility risk will be primarily determined by the underlying diagnosis, modified by several additional factors. Whilst fertility preservation options are well established for many patient ...

Drosophila melanogaster as a study model has already significantly contributed to the understanding of the mechanisms of many human diseases. So far D. melanogaster has rarely been exploited as a model for human sex development. Nanda et.al already demonstrated in 2009 that the Drosophila orthologue of SOX9, Sox100B is essential for testis development in Drosophila. Similarly, we could demonstrate that the fly homolog of STARD8, cv-c</...

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing were shown to carry a mutation in the X-linked StAR-related lipid transfer...

It is acknowledged that children should collaborate in research about their health conditions, and DSD research has been criticised for promoting views of parents and health professionals. However parents are concerned about professionals talking to children about sensitive subjects including fertility and sexual activity. Children may have little experience of talking about their sex development. This makes direct research involving children with DSD particularly challenging....

Keywords: Sleep-Related Breathing Disorders, recombinant human Growth Hormone treatment, Prader–Willi syndrome, Toddlers.Background: Recombinant human growth hormone (rhGH) therapy is beneficial for children with Prader–Willi syndrome (PWS) in improving short stature and metabolism, but the effect of early rhGH treatment on respiratory and sleep parameters for the PWS children under three years old remains el...

Background: Vitamin D deficiency can cause rickets and impaired bone growth in infants. In India, randomization to higher vitamin D supplementation doses in pregnancy led to decreased anterior fontanelle and increased head circumference at 0 and 9 months.Objective and hypotheses: To investigate the impact of cord 25-hydroxyvitamin D (25(OH)D) concentrations on cranial measures.Method: In a Danish prospective birth cohort of 2549 mo...

Background and Objectives: N-terminal-pro hormone Brain Natriuretic Peptide (NT-proBNP) and hs-Troponin T (hs-TnT) are commonly used cardiac biomarkers despite lacking a deeper understanding about influencing parameters especially in the healthy pediatric population. We previously found associations between NT-proBNP and hs-TnT and a child´s age, sex, pubertal status, Body Mass Index (BMI) and serum lipid levels. Subsequently, we explored associations wi...

Background: Increasing incidence of pediatric obesity has been observed worldwide. Metabolic syndrome, characterized by visceral obesity, dyslipidemia, hypertension and impaired glucose metabolism, is associated with obesity.Objective and hypotheses: To evaluate early ocular signs of hypertension by retinography in a cohort of overweight (BMI>85th)/obese (BMI>95th) children, in order to define the prevalence of retinal alterations and characteriz...