ESPE Abstracts

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....

Background: Steroidogenic factor-1 (SF-1), denominated as nuclear receptor subfamily five group A member 1 (NR5A1), is an orphan receptor that regulates several steps of adrenal and gonadal development. Mutations in its gene are responsible for different phenotypes of disorders of sex development (DSD).Objective and hypotheses: To study the functional impact of two novel NR5A1 mutations, the p.C247* and p.K396Rfs*34, both identified within the l...

Background: Autoimmune diseases have a higher incidence and prevalence among the individuals with Down syndrome (DS) compared to chromosomally normal people (increased risk for thyroid, gut and islet autoimmunity, juvenile idiopathic arthritis) These findings provide insights into a very aggressive phenotypic expression of autoimmunity in DS children.Objective and hypotheses: To investigate for the 1st time whether the association with DS might per se mo...

Like many other parts of the world the incidence of type 1 diabetes is increasing in Sudan leading to the double load of communicable and noncommunicable diseases. Many international guidelines for management of these cases have been published to help managing these children. In developing countries proper implementation of these guidelines is faced with difficulties due to lack of trained personnel, health care structure, accessibility to medical services, lack of facilities ...

Background: Neurokinin B and kisspeptin appear to play main roles in puberty.Aims and objectives: The aim of the present study was to investigate the diagnostic role of kisspeptin and neurokinin B in central precocious puberty (CPP) and premature thelarche (PT).Methods: The girls who presented with breast development (between 5 and 8 years) were included in the study. All cases underwent bone age (BA) assesment. Basal serum FSH, LH...

Objective: Given a large number of false-positive growth hormone deficiency (GHD) diagnoses from a single GH stimulation test in normal children, two different pharmacological tests, performed on separate days or sequentially, are required. This study aims to assess the reliability and safety of a combined clonidine-arginine stimulation test (CACST).Design: Retrospective, single-center, observational study....

we compared gender effect on growth and metabolic control with CAH. Morbidities associated with CAH, including risks of obesity, hypertension, dysglycemia, and dyslipidemia were investigated.Methods: Data from 30 children with CAH were analyzed retrospectively. They received hydrocortisone (n= 11) or prednisolone (n= 19) and fludrocortisone (0.1: 0.15 mg OD) since early infancy. The mean hydrocortisone dose = 22.5 +/- 7...

Objective: As obesity rates rise among children, non-alcholic fatty liver disease (NAFLD) is becoming more prevalent. Although liver biopsy is considered the gold standard for diagnosing NAFLD, it is an invasive procedure and not practical for screening. Asprosin, a recently unveiled adipokine, is released in response to fasting. In this study, we aim ed to investigate the diagnostic value of asprosin for NAFLD in obese patients....

Background: Tuberous Sclerosis Complex Subunit 1 (TSC1) encodes for the growth inhibitory protein hamartin, which suppresses mTOR signaling. Patients with TSC1 pathogenic variants are prone to developing benign tumors in the brain, kidneys, heart, skin, lungs, and other organs. We identified a likely pathogenic heterozygous germline TSC1 splicing variant NM_000368.5: c.737 +3A>G, r.664_737del, p. (Pro222Valfs*8) in a boy ...

Congenital hyperinsulinism (CHI) is a rare hereditary condition that causes excessive insulin production in the clinical picture of severe hypoglycemia. Patients with CHI frequently have mutations in the ABCC8 and KCNJ11 genes, which code for KATP channels in pancreatic beta cells. We present a case of partial diazoxide responsiveness caused by a heterozygous ABCC8 mutation in a child with moderate CHI. A four-month-old term baby with a ...