ESPE Abstracts

Background: Short stature is the most common clinical feature in patients with Turner syndrome (TS). The relation of different karyotyping to growth hormone (GH) level in provocation tests or to the response to GH therapy is debatable.Aim: to study the impact of different karyotypes on the GH level in provocation tests and on the response to GH therapy among a cohort of Egyptian girls with TS.<stro...

Laron's syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an insensitivity to growth hormone.There are exceptionally low levels of insulin-like growth factor (IGF-1)caused by homozygous or compound heterozygous mutation in the growth hormone receptor gene .It causes severe short stature and can be treated with injections of recombinant IGF-1. Laron syndrome is a rare disorder. About 350 people have been diagnosed with the condition world...

Donohue syndrome (also known as leprechaunism) is an extremely rare and severe autosomal recessive genetic disorder. Leprechaunism derives its name from the fact that people with the disease often have elfin features and are smaller than usual. Leprechaunism is also characterized by abnormalities of the endocrine system ; such abnormalities include hyperinsulinemia. Due to the mutation in Insulin receptor gene, infants with leprechaunism fail to use insulin effectively (insuli...

Background: Vitamin D deficiency is prevalent in infants and children in underdeveloped countries. Secondary myelofibrosis has been reported as a complication of severe rickets and in these children anemia, myeloid metaplasia and bone aplasia strongly suggested myelofibrosis.Case report: We report a case of myelofibrosis in two years old boy with severe vitamin D deficiency rickets and hepatosplenomegaly. He presented wi...

Background: Despite a shining sun all through the year, vitamin D deficiency is still prevalent in Egyptian children which suggests a relative resistance to vitamin D in Egyptian population.Aim: To assess 25(OH)D status in healthy pre-pubertal Egyptian children and to relate its levels to anthropometric parameters in these children.Methods: Sixty healthy children aged between 3 and 10 years coming to the Outpatient clinic, Children...

Background: Gonadal dysgenesis in Turner syndrome (TS) results in pubertal delay or failure and infertility in most patients. However, up to 30% of girls with TS have spontaneous pubertal development and 2–5% have regular menstrual cycles before the onset of premature menopause. Serum anti-Mullerian (AMH) levels reflect the ovarian reserve in females, even in childhood.Objective and hypotheses: To Asses serum AMH levels in patients with TS and its r...

Background: Some studies suggested a correlation between vitamin D (VD) and the GH-IGF1 but few studies, and with controversial results, have prospectively analysed the vitamin D status in children before and after GH treatment.Objective and hypothesis: To assess VD status in pre-pubertal children with idiopathic GH deficiency (GHD); and to evaluate effect of GHD and GH treatment on VD levels.Methods: 50 pre-pubertal children with ...

Background: Graves' disease is a rare autoimmune disorder in children. Its incidence is 0.1/100,000 person-years in young children and 3/100,000 person-years in adolescents. It is related to the production of TSH-stimulating autoantibodies occurring on a particular genetic predisposition. The particularity of Graves' disease in children is the risk of relapse after medical treatment, which is more frequent than in adults with a frequency of around 30...

Background: Duplication of the long arm of chromosome 4 has been described in more than 60 patients. The severity and specificity of associated symptoms depend on the size and location of the duplication, and which genes are involved.Reported features include developmental delay, intellectual disability, birth defects, hypotelorism, growth retardation, short neck, dysmorphism, and abnormalities to the extremities.Objective: To report a two-year old child...

Context: The outcome of a treatment depends largely on the observance and compliance of the patient. Studies analyzing therapeutic compliance in chronic endocrine diseases are rare and especially controversial in childhood. Studies have reported poor adherence in 6-50% of cases.Patients and Methods: We studied treatment compliance in 100 children treated with subcutaneous growth hormone for growth hormone deficiency, int...