ESPE Abstracts

Background: Bone marrow transplantation (BMTx) involves pre-conditioning regimens that compromise fertility Delayed puberty and hypogonadism are common in children with beta thalassemia major, due to chronic disease and transfusion requirements, due to iron overload in endocrine glands.Objective and hypotheses: Pubertal induction using hCG and FSH prior to gonadotoxic conditioning before BMTx should result in spermatogenesis sufficient to store sperm. We...

Background: Wolfram syndrome, also known as Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness (DIDMOAD), is a rare neurodegenerative disease of autosomal recessive inheritance with incomplete penetrance. In addition, it may present with different endocrine and metabolic abnormalities such as pituitary dysfunction. We reported clinical features, biochemical features and mutational analysis of a boy with Wolfram syndrome.Case presentation: A 7...

Hypopituitarism is genetically heterogeneous disorder that can affect solely the pituitary gland and its target organs, or it can present with craniofacial, brain, and/or neurosensory abnormalities. Mutations in over thirty genes are reported to cause hypopituitarism and growth insufficiency, yet most cases are unexplained. Mutations in the transcription factor PROP1 are the most common known cause of hypopituitarism in humans. Using Prop1 mutant mice we discovered th...

Purpose: Vitamin D deficiency (VDD) is very common nowadays in children as well as in adults, probably due to decreased exposure to sunlight. COVID-19 pandemic resulted in school closure and decreased outdoor activity in children, which lead to lower chance for exposure to sunlight. It was reported that the higher level of visceral fat was associated with the lower vitamin D levels in children. The aim of this study is whether body mass index (BMI) affect seru...

Background: Hypothyroidsim is known to be associated with liver function, cholesterol and some hormone levels including GH. But, there are fewer reports about the gonadotropin levels in thyroid dysfunction.Objectives and hypotheses: We report here some interesting laboratory findings in a 19.24-year-old severe short stature female case of ectopic thyroid.Methods: Laboratory investigations including the combined anterior pituitary f...

Background: Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in neonates and children. It is important to minimize recurrence of episodes of hypoglycaemia. In some cases, Hypoglycemia was not controlled even after near total pancreatectomy.Objective and hypotheses: To study the glycemic response of sirolimus in patients with hyperinsulinemic hypoglycaemia that was not responsive to octreotide and calcium channel blocker aft...

Objectives: Vitamin D deficiency is prevalent in pediatric population. Since low compliance may inhibit appropriate vitamin D supplementation in daily dosing regimen, intermittent high dose administration may be considered. We aimed to evaluate the efficacy and safety of monthly administration of oral cholecalciferol compared with daily dosing regimen in adolescents with vitamin D deficiency.Methods: This retrospective s...

Background: In paediatric patients with metabolic bone diseases, measurement of the concentrations of minerals including inorganic phosphate is often indicated, and hypophosphataemia is a clinically manageable biochemical disorder. The clinical interpretation of plasma or serum phosphate concentrations depends, to a certain extent, on the age- and gender-specific reference intervals applicable to the laboratory methods employed.Whereas h...

The girl was born full-term vaginally with birth weight 3.380kg. She had stayed in neonatal unit for 3 days for neonatal fever. Physical examination was unremarkable. She had normal-looking female external genitalia. She was discharged after a negative infection screen.She presented again at the age of 11 years with hoarseness of voice. Physical examination revealed normal growth and blood pressure. She had hoarseness of voice with mild laryngeal promine...

Background: GnRHa (gonadotropin releasing hormone analogue) inhibits growth spurt during treatment of precocious puberty. So they have limitation of final height gain.Objective and hypotheses: It is need to study about what factor associated with growth decrement and ideal suppression level of sex steroid during GnRHa treatment.Method: Female Sprague–Dawley rats of 3 weeks of age (Total 15) were divided into three groups; (1) ...