ESPE Abstracts

Introduction: Turner Syndrome (TS) is the consequence of complete or partial absence of one X chromosome in a phenotypic female. The genes involved in Turner phenotype are X-linked genes that escape inactivation. A major locus involved in the control of linear growth has been mapped within the Pseudo-Autosomal Region (PAR1) of the X chromosome.Aim: To study some endocrine hormones with considerable effect on the presentation and prognosis of TS and their...

Background: Living with type 1 diabetes especially in developing countries can feel overwhelming for parents and children because constant vigilance is required for proper care with inadequacy of resources.Objectives and hypothesis: Our aim was to investigate the frequency of depressive symptoms in children and adolescents with type 1 diabetes and their association with demographic, diabetes-specific, and family-functioning risk factors.<p class="abs...

Background: Disorders of sex development (DSD) comprises a heterogeneous group of conditions involving interference with normal sex differentiation and hormonal production in the embryo. Imaging is a very useful tool in assessing the patient’s phenotypic sex through identifying the internal genital anatomy and the adrenal glands. Ultrasonography is a cheap and readily available tool. MRI has disadvantage of being expensive with long waiting lists especially in developin...

Background: Type 1 diabetes (T1DM) is a chronic disease with many chronic complications as nephropathy, retinopathy and neuropathy or macrovascular complications as coronary artery disease and peripheral vascular disease due to the effects of hyperglycemia and dyslipidemia on vascular endothelial function. Moreover, in patients with T1DM, hypertension (HTN) is a significant contributor to the development of both micro- and macrovascular complications.<p cl...

Androgen insensitivity syndrome (AIS) is the largest single entity that leads to male under-masculinization. Although adequate serum concentrations of testosterone exclude a defect in testosterone biosynthesis, a low testosterone value at baseline does not always exclude PAIS. Anti-Müllerian hormone (AMH), also called Müllerian inhibiting substance or factor, is secreted in high amounts by the immature Sertoli cell; it is negatively regulated by testosterone.<p c...

Disorders of sex development (DSD) comprise a heterogeneous group of conditions involving interference with normal sex differentiation and hormonal production in the embryo resulting in relatively rare conditions having diverse pathophysiology. The aim of the current work is to study the clinical characteristics and testicular function of patients with 46 XY DSD. A cross-sectional study was done included children with initial presentation of atypical genitalia and satisfied th...

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer in children. Corticosteroids are the cornerstone in treatment of pediatric ALL. Steroids can cause several side effects including secondary adrenal insufficiency with disruption of cortisol response to stress causing morbidity and even mortality in those children.Objective: To assess the adrenal gland function of children with ALL before and after i...

Background: Growth impairment is a known complication of sickle cell disease (SCD). Effects of hydroxyurea (HU) on growth in older children with SCD have never been reported.Objective and hypotheses: This study was done to explore the potential effects of HU on growth parameters of older children with SCD and correlate these changes with clinical improvement.Method: A prospective study was conducted on 97 SCD patients started on HU...

Background: NEUROD1 encoding neurogenic differentiation 1 is known to play an important role in the development of the pancreas and central nervous system. Heterozygous mutations have been rarely identified as a cause of maturity-onset diabetes of the young (MODY6). Biallelic NEUROD1 mutations have been reported to cause neonatal diabetes mellitus (NDM) as well. However, only 3 cases have been reported worldwide so far....