ESPE Abstracts

Background: Primary care pediatricians (PCPs) use thyroid function tests (TFT) as screening tests in children and adolescents with various health complaints. Thus, it is crucial to evaluate the results according to appropriate cut-offs individualized to the child characteristics. Such references values, which are missing in the pediatric age group, are needed for proper evaluation of the thyroid functions.Objective and hypotheses: To determine normal TSH...

Keywords: Hypertriglyceridemia; Familial Chylomicronemia Syndrome; GemfibrozilBackground: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease affecting lipoprotein metabolism. The condition is characterized by hypertriglyceridemia, which may predispose patients to acute pancreatitis. FCS is estimated to occur in 1 in 1 - 2 million individuals [1] and can be diagnosed at any age, affecting all ge...

Background: Gonadal dysgenesis in Turner syndrome (TS) results in pubertal delay or failure and infertility in most patients. However, up to 30% of girls with TS have spontaneous pubertal development and 2–5% have regular menstrual cycles before the onset of premature menopause. Serum anti-Mullerian (AMH) levels reflect the ovarian reserve in females, even in childhood.Objective and hypotheses: To Asses serum AMH levels in patients with TS and its r...

Background: Although Ramadan fasting is one of the five pillars of Islam and is compulsory for all healthy Muslims from puberty onwards, religious exemptions exist for patients with type 1Diabetes. The risks of fasting include: hyperglycemia, hypoglycemia, ketoacidosis, thrombotic episodes, and dehydration. Many adolescents still insist to fast due to religious or social motives.Objectives: To study the risks and metabol...

Human sex development relies on differentiation of the gonads, in which Sertoli and granulosa cells play a key role for men and women respectively. Many variations of sex development (VSD) are due to alteration of these two cell types. The study of the mechanisms underlying these conditions is crucial for optimal clinical management of VSDs, as for more than 50% [1] of all VSD patients, the molecular cause of their condition remains unknown. The collection of primary cells is ...

Cardiovascular disease (CVD) is the leading cause of morbidity and mortality in patients with diabetes. Macro- and micro-vascular complications are involved in the pathophysiology of CVD and the increased risk of developing atherosclerosis in this population. A probable association between type 1 diabetes (Type 1 D) and CVD has been attributed to chronic uncontrolled hyperglycemia, inflammation, endothelial dysfunction (ED), and subclinical manifestations of vascular disease. ...

Backgrounds: Sitosterolemia is an inborn error of sterol metabolism caused by pathogenic variation of ABCG5 or ABCG8. It is characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis; however, it is likely to be underdiagnosed in the clinical field. This study aims to describe the genetic variance of clinically confirmed patients with sitosterolemia and analyze the clinical spectrum according to genetic variance.<p class="ab...

Introduction: Children with Growth Hormone deficiency(GHD) should be treated with r-hGH as early as possible after the diagnosis is made. The primary objectives of therapy is to normalize growth during childhood and to achieve final height within their genetic potential.Objectives: To determine impact of GH treatment on short term linear growth in the 1st year of therapy in children with isolated growth hormone deficienc...

Background: The incidence of Disorders of sex development (DSD) in Egypt was reported to be 1 in 3,000 live births. Late diagnosis, severe salt wasting with high morbidity and mortality, and inappropriate sex -assignment are challenging problems that constitute medical and social emergencies. Serum Anti Mullerian Hormone (AMH) and Inhibin B levels are possible tools for assessment of Sertoli cell function that can help early diagnosis of patients with suspecte...

Background: The gold standard for adequate hormonal suppression during GnRHa treatment for precocious puberty (PP) is attenuated serum LH levels in response to LHRH stimulation.Objective and hypotheses: We aimed to compare basal and post-GnRHa levels of LH to LHRH stimulation test, and to evaluate first-voided urinary LH (ULH) as a non-invasive alternative method for monitoring treatment.Method: Seventeen girls with PP were followe...