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: 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: 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...

Anthropometric somatotype components show significant resemblance in monozygotic (MZ) and dizygotic twins (DZ) twins within each sex with a greater resemblance within MZ twin pairs than within DZ twin pairs. In many studies a significant positive correlation was found between the parental height and the height of girls with TS.This girl with Turner syndrome {46, X, i(Xq) presented at the age of 7.5 years for evaluation of her short stature. Her clinical ...

Background: In infants, less than 1-year JGCT is extremely rare, with very few reported cases in the literature.Case Report: This 9-month old girl, presented with a day history of bloody vaginal secretions, with an increase in breast size bilaterally 2 months before presentation and growth of fine hair in the genital area. She had no skin hyperpigmentation, no skeletal abnormalities, and no dysmorphic features. On examination, the girl had no dysmorphic ...

Introduction: Hyperinsulinaemic Hypoglycaemia (HH) is the most common cause of recurrent and persistent hypoglycemia in the neonatal period. Cortisol and GH play an important role as counterregulatory hormones during hypoglycemia. Both antagonize the peripheral effects of insulin and directly influence glucose metabolism.Patients and Methods: We studied cortisol and GH secretion in newborn infants with HH during spontaneous hypoglycemia....