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 =...

hrp0095p1-304 | 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. ...

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...

hrp0092p2-156 | GH and IGFs | ESPE2019

Growth Hormone Monotherapy Versus Combined GH and LHRH Analog in 2 Sisters with Short Stature, Early Pubertal Development, and Advanced Bone Age (BA)

Elsiddig Sohair , Soliman Ashraf , Alaaraj Nada , Khalil Ahmed

Introduction: There is still a debate on the effect of combined treatment with growth hormone (GH) and a luteinizing hormone-releasing hormone (LHRH) analog versus GH alone on final adult height in children with idiopathic short stature (ISS) and those who have early pubertal development at a short height.Case Report: We studied two sisters with a history of familial short stature, early puberty and advanced bone age at ...

hrp0092p2-296 | Thyroid | ESPE2019

Progressive thyroid dysfunction in infants with Down Syndrome; Trisomy 21 (DS): Effect on Linear Growth

Alaaraj Nada , Soliman Ashraf , Mohammed Shayma , Itani Maya , Khalil Ahmed

Hypothyroidism is the most frequent thyroid abnormality in DS. It can be either congenital, with or acquired at any age after birth. It can be clinical or subclinical disorder. More evidence is required regarding the progressive development of thyroid dysfunction with age.Aim and Methods: We measured thyroid function (Free T4 and TSH) and Anti TPO level in 37 infants with DS at birth, during their first year and after ~ 2.5 years of...

hrp0092p3-153 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Prevalence of Thyroid Dysfunction and Associated Autoimmune Disorders in Young Children with Down Syndrome (DS); A Cohort Study.

Alaaraj Nada , Soliman Ashraf , Itani Maya , Mohammed Shayma , Khalil Ahmed

There is an intriguing association between DS and thyroid abnormalities, which include sub-clinical, overt hypothyroidism, hyperthyroidism, and positive thyroid Antibodies. The prevalence of these abnormalities varies considerably depending on the diagnostic criteria and the selected population which includes sample size and age group.Aim: To measure the prevalence of thyroid dysfunction and associated autoimmunity in children with Down ...

hrp0092p3-161 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

The Effect of Thyroxine Treatment on Linear Growth and Weight Gain in Infants and Children with Down Syndrome (DS) and High TSH Versus Children with DS and Normal Thyroid Function: A Controlled Study

Alaaraj Nada , Soliman Ashraf , Itani Maya , Mohammed Shayma , Khalil Ahmed

Background: Subclinical hypothyroidism is the most common in DS. Thyroxin administration to improve growth early in life is still controversial.We measured linear growth (BMI, height SDS (HtSDS) and weight gain/day ) in 3 groups of infants and young children with Down syndrome (trisomy 21) and divided them retrospectively into 3 groups according to their thyroid function. Group 1 (n = 25) with normal FT4 and TSH, group 2 (n = 20)...

hrp0089p3-p114 | Diabetes & Insulin P3 | ESPE2018

Metformin Therapy Ina Lean Adolescent Girl with Prediabetes Dysglycemia Treated: Good Response

AlAaraj Nada , Hermi Amene , Hamed Noor , Ahmed Shaymaa , Soliman Ashraf

Background: Metformin (dimethylbiguanide) is the most widely prescribed treatment for children with T2DM. Long term controlled studies are still required to assess its effect on prediabetes dysglycemia in childrenCase presentation: A 13-year-old lean adolescent girl presented to PEC with a day history of difficult breathing associated with dry cough. No history of fever, abdominal pain, vomiting or change in bowel motion. She had a 10 months’ histor...

hrp0089p3-p120 | Diabetes & Insulin P3 | ESPE2018

Oral Gliclazide (A Sulfonylurea) Monotherapy is Effective and Safe in the Management of T2DM in Children: A Case Report

Ahmed Shayma , Soliman Ashraf , Alaaraj Nada , Hamad Noor

Introduction: Most of the oral medications available for treating type 2 diabetes (T2DM) have not been studied in children. T2DM in pediatric patients is usually treated with metformin and insulin. The use of other oral antidiabetic drugs is not clearly delineated in T2DM in children although potentially useful.Case report: A 13 year-old girl, presented with polyuria, polydipsia and weight loss (5 kg) for 2 weeks before presentation. Her Weight=65.7 kg, ...