ESPE Abstracts

Introduction: In Qatar, the prevalence of metabolic syndrome (MetS) in children and adults is increasing in parallel with the markedly increasing trends in obesity rates. We studied the prevalence of different components of MetS, measure plasma atherogenic indexes (AIP), and linear growth in young obese nondiabetic children (< 5 years) in comparison to older obese children (6-12 years).Methods: We analyzed the anthrop...

Introduction: Development of type 1 diabetes is well known in cases of type 2 autoimmune polyglandular syndrome (APS). We describe a case of APS2 who developed a hybrid form of diabetes that responded to metformin therapy.Case: The patient is a 17.5 year old male patient who has been diagnosed with APS2 at the age of 13 years with primary adrenal insufficiency and autoimmune hypothyroidism .he has been on treatment with ...

Introduction: The DIAPH2 gene (Diaphanous homolog 2 Drosophila) is a Protein Coding gene found on the long arm of the X chromosome and is a member of the FH1/FH2 protein family. Members of this family affect cytokinesis and other actin-mediated morphogenetic processes required in early gonadal development.Case Description: An eight-year-old girl was referred with a chief complaint of short stature. She is a product of no...

Introduction: Hybrid diabetes is a challenging form od diabetes that need to be more studied. We describe a case of hybrid diabetes with a prolonged honeymoon due to the use of metformin.Case: Our patient is a 10 year old female patient who was diagnosed as type 2 DM on September 2017 at the age of 8 years. She was obese with BMI = 29.8 Kg/ m^2 with marked acanthosis nigricans. She had a patch of vitiligo on the face...

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...

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...

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: Van Wyk-Grumbach Syndrome (VWGS) is a constellation of symptoms including precocious puberty without adrenarche, delayed bone age, ovarian cysts, and hypothyroidism.Case report: We report here a five-year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding, and abdominal distention. Her HtSDS =-1.3 and BMI SDS =1.5. A large abdominal mass was palpable. She had no breast development or pubic hair. Her Inv...