ESPE Abstracts

Introduction: Management of CAH presents unique challenges distinct from other forms of adrenal insufficiency. Higher doses of glucocorticoids are required to suppress adrenal androgen synthesis, which can lead to overtreatment. Steroid-associated adverse events (SAAE) include hypertension, hyperglycemia, and diabetes, overweight and obesity and short stature.Aim: The goal of this study was to assess the occurrence of st...

Introduction: Debate still exists about the safety of long-term use of prednisone (P) versus hydrocortisone (HC) for treating children with congenital adrenal hyperplasia -21OH D (CAH).Aim: To investigate the linear growth and weigh gain as well as metabolic component in children with CAH who were treated with either HC or P since early infancy for 5 years or more.Methods: Data of ...

we compared gender effect on growth and metabolic control with CAH. Morbidities associated with CAH, including risks of obesity, hypertension, dysglycemia, and dyslipidemia were investigated.Methods: Data from 30 children with CAH were analyzed retrospectively. They received hydrocortisone (n= 11) or prednisolone (n= 19) and fludrocortisone (0.1: 0.15 mg OD) since early infancy. The mean hydrocortisone dose = 22.5 +/- 7...

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...

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...

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...

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...

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)...