hrp0097p2-186 | Adrenals and HPA Axis | ESPE2023

Severe hypertension with hypokalemia in uncompliance child with CAH: Fludrocortisone a cause of HTN.

Sharaf Muna , Alaaraj Nada

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) due to mutation in StAR gene, is the most severe form of congenital adrenal hyperplasia (CAH). Affected patient had intracellular cholesterol accumulation in the adrenal glands and tests that manifest clinically in adrenal insufficiency and sex reversal in XY male. Hormonal replacement therapy with physiological doses of glucocorticoids and mineralocorticoids, is the treatment option.<p class="abst...

hrp0095p1-304 | GH and IGFs | ESPE2022

Growth hormone deficiency and central hypothyroidism related to microarray abnormality involving a loss of ~111-kilobases (kb) within cytogenetic band Xq28 and a gain within cytogenetic band 20q11.22.

Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada

Chromosomal microdeletions and microduplications have been associated with syndromic forms of intellectual disability (ID). The Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of neurobehavioral abnormalities, and variable facial dysmorphic features. All males reported to date with the syndrome have a moderate-to-severe intellectual disability. ...

hrp0094p2-306 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Growth hormone deficiency (GHD) with high circulating insulin-like growth factor-1 (IGF-1) in an adolescent with celiac disease: Is it IGF-1 insensitivity?

Alaaraj Nada , Soliman Ashraf , Hamed Noor ,

Impaired growth in children with Celiac Disease (CD) results mainly from nutritional deficits. Withdrawal of gluten from the diet is frequently associated with a marked improvement of linear growth. Some CD patients still have impaired growth despite good gluten elimination. GH secretion should be evaluated in CD patients showing no catch-up growth. We describe a case with CD and severe linear growth retardation due to possible IGF-1 resistance.Case Pres...

hrp0094p2-328 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Excessive body hair, short stature and advanced bone age in a girl: Hypertrichosis versus adrenarche?

Soliman Ashraf , Elawwa Ahmed , Alaaraj Nada ,

A 6-year-old girl presented with hypertrichosis all over the body. She was born at term with a birth weight of 2 kg. She had a paralytic squint with excess body hair since birth. She had delayed developmental milestones. She had HTSDS = -1.3, BMI SDS = 0.66. Her Mid-parental HtSDS = 0. She had no other signs of puberty. (breast Tanner 1). Investigations revealed DHEAS = 3.3 Umol/L, Estradiol = 43 pmol/l, FSH = 1.5 IU/L. LH = 0.5 IU/L, Testo: 0.63 nmol/l, IGF1 = 200 ug/l, FT4 =...

hrp0095p1-452 | Diabetes and Insulin | ESPE2022

Limited genotype-phenotype correlation in FOXP3 gene within same family member

Sharaf Muna , Alaaraj Nada , Shurrab Shaymaa , Zangen David

Introduction: FOXP3 protein is crucial in enabling T-regulatory cells to maintain tolerance to self-antigens. Mutations in human Foxp3 gene are associated with immune diseases, such as multi-organ autoimmune disorder, immune dysregulation, polyendocrinopathy, enteropathy and X-linked syndrome (IPEX).Case Presentation: A 15 months old male, presented initially at 2 weeks of age with failure to thrive hyperglycemia and sev...

hrp0095p1-138 | Multisystem Endocrine Disorders | ESPE2022

Long-term Growth and Endocrine Complications of Bone Marrow Transplantation in Children and Adolescents with Beta-Thalassemia Major: Comparison with Conventional treatment

Ahmed Shayma , Soliman Ashraf , Alaaraj Nada , Hamed Noor

Introduction: The conventional approach to the treatment of Beta- thalassemia major (BTM) is based on the correction of hemoglobin status through regular blood transfusions and iron chelation therapy for iron overload. Allogeneic hematopoietic stem cell transplantation (HCT) remains the only currently available technique that has curative potential. No previous study compared the long-term growth and endocrinopathy changes among large cohorts of BTM patients o...

hrp0095p1-140 | Multisystem Endocrine Disorders | ESPE2022

Prevalence of Endocrinopathies in Sickle cell Disease Patients on Conventional Therapy: Review of literature in the past 25 years

Soliman Ashraf , Alaaraj Nada , Soliman Nada , Bilal Ilham

Methods: We performed an electronic search in PubMed, Google Scholar, and Web of Sciences to evaluate the global prevalence of growth hormone impairment and different endocrinopathies in SCD in all publications in the past 25 years.Results: Sixteen studies were included from 9 countries (USA, Canada, UK, Brazil, Jamaica, Egypt, Turkey, Saudi Arabia, and Bahrain) after 2000. The total number of patients was 1286. Most pat...

hrp0095p1-334 | Multisystem Endocrine Disorders | ESPE2022

Multi-continent comparison of the prevalence of short stature and undernutrition in children and adolescents with homozygous sickle cell disease: Africa, USA, Europe, and Middle East area

Soliman Ashraf , Alaaraj Nada , Soliman Nada , Bilial Ilham

Background: Poor growth and under-nutrition are common in children with sickle cell disease (SCD). This review summarizes evidence of impaired linear growth and weight gain in children with SCD in different regions of the world in the past 25 years.Methods: A literature search was conducted on Medline/PUBMED, Google scholar, and SCOPUS, for studies published in English during the past 25 years, using the keywords sickle ...

hrp0095p2-100 | Fat, Metabolism and Obesity | ESPE2022

Comparison between Triglyceride-Glucose Index (TyG) and Atherogenic index of plasma (AIP) in relation to the different components of the metabolic syndrome (MetS) in morbidly obese children

Hamed Noor , Soliman Ashraf , Alaaraj Nada , Ahmed Shayma

Background: Metabolic syndrome (MetS) is related to increased cardiovascular complications of obesity. The triglyceride-glucose (TyG) index is frequently used as an indicator of insulin resistance in adults. However, there is scant information on the TyG index in the morbidly obese Pediatric population, nor is its correlation with the components of the metabolic syndrome (MetS).Methods: We compared the use of TyG vs athe...

hrp0092p2-43 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Rare Form of Vitamin D Receptors Dysfunction (vitamin D-dependent Rickets Type II) with Alopecia. A Case Report

Ahmed Shayma , Soliman Ashraf , Elawwa Ahmed , Hamed Noor , Alaaraj Nada

Introduction: VDDR II is an autosomal recessive disorder caused by a defect in the vitamin D receptor gene located on chromosome 12q12–q14. Thus far, 13 mutations have been identified. It is characterized by hypocalcemia, secondary hyperparathyroidism, and early onset severe rickets. Here we report a case of a severe form of rickets associated with alopecia.The Case: This 23-month-old boy was born at term to consang...