ESPE Abstracts

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...

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: 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...

Introduction: Early and fast puberty (EFP) in girls, defined as pubertal onset at age 8-9 yr., with an accelerated course, may cause compromised final adult height (FAHt). Treatment with a gonadotropin-suppressive agent is still controversial because the improvement in FAHt is equivocal and there may be a risk of overweight.Aim of the study: We analyzed the data of 24 girls with EFP treated with GnRH analog (GnRH) since Tanner stage 2-3,...

Introduction: Hyperprolactinemia (HPrl) secondary to macroadenoma is a rare endocrinopathy in childhood but represents one of the most frequent forms of pituitary adenoma.Case report: A 12yr old girl was referred for assessment of progressive weight gain in the last 1.5 years. Despite trials of weight control by changing the dietary habit and daily exercise weight her BMI SDS increased from 1.2 to 2.2. This was associated with progressiv...

Introduction: In diabetic pregnancies, data about the interaction between maternal, placental, and fetal IGF1/IGFBP in relation to newborn size is not clear,Aim: To review research papers published in Pubmed, Google scholar, Research gate, and Scopus in the past 20 years on the relation between placental IGF1/IGFBP-1 and fetal/infantile/childhood growth in pregnancies associated with maternal diabetes.<p class="abste...

Introduction: Stimulated GH peak values have been shown to correlate well with nocturnal GH peak values and with nocturnal mean GH values. In addition, the expression level of serum IGF-1 in ISS has been shown to be significantly lower than that in normal children despite their normal GH peak response to provocation. GH stimulates the production of IGF1; however, their metabolic effects are different. GH has lipolytic and anti-insulin actions while IGF1 has in...

Introduction: The 22q11 deletion is one of the most commonly recognized deletion syndromes in humans (~ 1/4000 live births). Most of the reported defect generally involves a deletion at breakpoints LCR22A and LCR22D causing DiGeorge or velo-cardio-facial syndrome. In deletion syndromes, the phenotype ranges from unspecified dysmorphic features to severe cognitive/behavioral deficits, but normal features can occur depending on the size and amount of gene dosage...