hrp0089p3-p289 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Investigating Malnutrition Among Children Diagnosed with Neuroendocrine Tumors Receiving Chemotherapy in a Tertiary Care Hospital of Pakistan

Fatima Arooj , Zaidi Syed Sammar Abbas

Background: Children under 25 diagnosed with neuroendocrine tumors often suffer from Malnutrition which raises the risk of infections. Being immunocompromised, there is a marked reduction on quality of life (QoL) and health outcome. Malnutrition also enhances the incidence of postoperative complications such as delayed wound healing, wound dehiscence, morbidities and mortalities.Aims: To investigate malnutrition among children diagnose with neuroendocrin...

hrp0086p2-p164 | Bone & Mineral Metabolism P2 | ESPE2016

Vitamin D Dependent Rickets Type II in Saudi Children

Alashwal Abdullah , Aldhalaan Waheeb , Abbas Bassam Bin

Background: Vitamin D dependent rickets type II (VDDR II) is a rare autosomal recessive disorder, inherited due to mutation on vitamin D receptor (VDR) leading to end organ unresponsiveness to vitamin D. It is characterized by an early onset refractory rickets, hypocalcaemia, hypophosphatemia, growth retardation, hyperparathyroidism and elevated circulating levels of 1,25-dihydroxyvitamin D3 which is the hallmark of the disease.Objective and hypotheses: ...

hrp0095p2-27 | Adrenals and HPA Axis | ESPE2022

It is Not Always A Piece of Cake!!

Diab Dina , Sayed Shaymaa El , Marzouq Iman , El Neely Dalia , Alaa Thabet Dalia , Awaa Ahmed El

Introduction: Congenital lipoid adrenal hyperplasia (lipoid CAH), is a rare subtypes of adrenal hyperplasia yet the most fatal form, which seriously disrupts adrenal and gonadal steroidogenesis by a defect in the conversion of cholesterol to pregnenolone. Affected patients show salt loss from impaired mineralocorticoid and glucocorticoid synthesis. The defect in lipoid CAH is mainly in the steroidogenic acute regulatory protein (StAR), which promotes entry of ...

hrp0092p2-256 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

A Clinical and Cytogenetic Study of Patients with Disorders of Sex Development (DSDs) Associated with Congenital Anomalies or Recognizable Syndromes

Mazen Inas , Mekkawi Mona , Kamel Alaa , Waly Sherif , Atef Abeer , Torky Ahmed , El Gammal Mona

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...

hrp0086p2-p416 | Gonads & DSD P2 | ESPE2016

Cytogenetic Variability and Phenotypic Findings in Patients with Ovotesticular Disorder of Sex development

Mekkawy Mona , Mazen Inas , kamel Alaa , Mohamed Amal , El Dessouky Nabil

Background: Ovotesticular disorder of sex development (OT- DSD) is a very rare disorder characterized by the presence of both ovarian and testicular tissue in the same individual. It has an approximate incidence of less than 1/20 000.The patients usually present with ambiguous genitalia and the majority show a 46,XX karyotype, with absence of the SRY sequence.Objective and hypotheses: The study reports the cytogenetic variability and gonadal histological...

hrp0097p2-312 | Late Breaking | ESPE2023

Clinical and Genotypic characteristics of cases of Congenital Adrenal Hyperplasia due to 11- Beta Hydroxylase Deficiency at Alexandria University Children’s Hospital

Elsayed Shaymaa , Alaa Eldin Thabet Mohamed , Marzouk Eman , Elneely Dalia , Fawzy Dina

Introduction: 11-Beta-hydroxylase deficiency (CYP11B1) is the second most common cause of Congenital Adrenal Hyperplasia (CAH). Although the relative frequency of 11-OHD is reported as 3-5% of the cases of CAH, these numbers may have been somewhat underestimated.(1,2) The resultant clinical picture in 11-OHD is similar to that of 21-OHD, except for the variable presence of hypertension and hypokalemia due to DOC excess.(2,3)Aim o...

hrp0097p1-528 | Growth and Syndromes | ESPE2023

Seasonality in growth of preschool children in Palestine, a pilot study

Eida Hasan , Mansour Ahmad , Abdelhafez Mohammad , Elayan Tamara , Mansour Maryam , Abu Rob Alaa , Alghneimat Bilal , Rfidi Iyad

Introduction: Genetics, diet, and physical activity are just a few of the variables that determine child growth rates, but seasonal variations in these variables can also have an impact on growth patterns. Among kids aged four and five, we looked at the seasonality of changes in height, body weight, and BMI.Methods: This was a pilot study carried out in Palestine at a private school where psychological factors could be r...

hrp0098p2-257 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Clinical and Laboratory Characteristics of Children with Congenital Adrenal Hyperplasia (CAH): A Comparative Study of Hypertensive and Normotensive Patients

Elsayed Shayma , Tawfeek Soliman Ashraf , Elawwa Ahmed , Alaa ElDin Thabet Mohamed , Marzouk Iman , Elneely Dalia , Diab Dina

Background: Hypertension is a recognized complication in children with Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, treated with glucocorticoids and mineralocorticoids. This study aims to compare the clinical and laboratory characteristics of children with CAH who developed hypertension with those who maintained normal blood pressure (BP) over a treatment course.Methods: This retrospective cohor...

hrp0098p2-258 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Impact of Precocious Puberty on Clinical Management in Pediatric Patients with Congenital Adrenal Hyperplasia

Elsayed Shayma , Taweek Soliman Ashraf , Elawwa Ahmed , Alaa Eldin Thabet Mohamed , Marzouk Iman , Elneely Dalia , Diab Dina

Background: Congenital Adrenal Hyperplasia (CAH) is a complex endocrine condition with varying presentations, one of which includes precocious puberty. Understanding how precocious puberty affects clinical parameters in pediatric CAH patients is crucial for optimizing management strategies.Methods: This study conducted a comprehensive statistical analysis comparing pediatric CAH patients with precocious puberty (n</e...

hrp0098p3-235 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Comparative Analysis of Clinical Presentation and Hormonal Profiles in Egyptian Pediatric Patients with 11-Beta-Hydroxylase and 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia

Diab Dina , Alaa El-Din Thabet Mohammed , Mohamed Marzouq Iman , Elneely Dalia , Tawfeek Soliman Ashraf , Elawwa Ahmed , Elsayed Shaymaa

Introduction: Congenital Adrenal Hyperplasia (CAH) encompasses a spectrum of genetic disorders resulting from enzyme deficiencies that impair adrenal steroidogenesis. The most common forms are due to 21-hydroxylase and 11-beta-hydroxylase deficiencies, each presenting with distinct clinical and hormonal profiles.Aim: This study aims to compare the clinical presentations and laboratory findings in Egyptian pediatric patie...