ESPE Abstracts

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...

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 ...

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...

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 ...

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)...

Introduction: Testicular regression syndrome (TRS) also called vanishing testes syndrome is a rare developmental disorder that represents less than 5% of cryptorchidism cases. It is characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS phenotypes are various depending on the extent and timing of the intrauterine accident during fetal sexual development.Material and Me...

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...

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, ...

Introduction: Controversy still exists about the effect of GH treatment on linear growth and weight gain (WG) in children with ISS.Aim: To study linear growth and weight gain in children with ISS treated with GH vs those not treated in comparison with treated children with GHD.Methodology: We conducted a longitudinal controlled study on 78 children presented to a pediatric clinic with short stature...

Introduction: A multicenter clinical trial in the US showed that underweight small for gestation (SGA) children responded to GH treatment like non-underweight SGA children. However, data on GH response in short underweight children with the normal birth size is not studied well.Aim: To measure growth response to GH therapy in underweight children versus short normal-weight children with idiopathic short stature (ISS) bor...