ESPE Abstracts

Langerhans cell histiocytosis (LCH) is a rare disorder of unknown etiology affecting the mononuclear phagocyte system. It is characterized by clonal uncontrolled proliferation and accumulation of immature dendritic cells in different organs. Affected cells express CD1-alpha and/or CD207 (Langerin) on immunohistochemistry. Although bone is the most commonly affected organ (80%), all other organs can be affected either alone or in combination. LCH is classified into Single syste...

Introduction: obesity is a major health problem worldwide and its incidence is increasing annually. Adipose tissue produces and regulates many hormones and cytokines which have relationship with obesity comorbidity. Serum level of vitamin D has been previously reported to have a negative relationship with obesity.Objective: To evaluate the relationship between vitamin D status and leptin, adiponectin, lipid profile and I...

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissues in the gonads of the same individual. Patients usually present at birth with ambiguous genitalia, and the majority showed a 46,XX karyotype, with absence of the SRY sequence. In this study we reported on nine patients with OT-DSD, who were referred to the Human Genetics and endocrinology Clinics, division ...

Background: Given that diabetes is an extremely common disorder in Egypt, the Diabetes Registry was designed by Pediatric Diabetes Clinic, Ain Shams University Hospital in the year 2010.Aim: Identify risk factors related to poor glycemic control and to provide data to health professionals for use in planning, evaluation, and optimizing diabetes care in those patients.Subjects and methods: The registry was designed to provide inform...

Background: As a global pandemic and a public health concern, obesity impacts physical health adversely. Obesity is defined as abnormal excessive fat accumulation in adipose tissue. Where a portion of which have polygenic and monogenic etiology. Individuals carrying a rare gene variant that has a striking impact on adiposity are considered to be part of Monogenic obesity. In this study, we aimed to identify the presence of monogenic mutations contributing to e...

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...

Disorders of sex development (DSDs)represent a diverse group of clinical conditions which have a very wide phenotypic spectrum associated with a complicated molecular background.Such conditions are considered among the most common birth defects andare frequently associated with congenital abnormalities.Herein we present 62 patients with DSD associated with somatic anomalies. Patients were selected from clinical genetics dept., NRC. They underwent complet...

Background: There are multiple factors affecting fetal growth, including maternal, fetal, placental and other environmental factors. Insulin like growth factor-1 ( IGF-1) has a major role in promoting fetal and post-natal growth. It is also proven that IGF1 promote brain, inner ear and retinal development.Case: We report a 9-years old boy born at 31 weeks of gestation to a consanguineous parents by cesarean section for s...

X-linked hypophosphataemia (XLH) is the most common form of inherited hypophosphataemic rickets, caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homologue X-linked (PHEX), resulting in excess circulating fibroblast growth factor 23 (FGF-23).1,2 In children, therapy includes daily oral phosphate and active vitamin D analogue (alfacalcidol or calcitriol) supplementation, but is associated with gastrointestinal side...

Gonadotrophin Releasing Hormone agonists (GnRHa) are used in the management of true precocious and early onset puberty. They have been associated rarely with severe adverse effects such as slipped capital femoral epiphysis, sterile abscess formationand anaphylaxis. Anaphylactic reactions had been reported at a low incidence rate. They can occur early or late after starting treatment or be recurrent after an injection due to the analogue's long half-life.The allergic reacti...