ESPE Abstracts

Introduction: Physicians often treat patients with high doses of vitamin D for various ailments and on occasion the prescribed doses far exceed the requirements of the patients. We present here two infants with vitamin D intoxication.Case presentation: A 6 month-girl child was brought to the hospital with complaints of persistent vomiting and refusal to feed. She was clinically dehydrated. She was administered 150.000 IU every day for 8 days. Serum calci...

Background: 5α-reductase-deficiency is an autosomal recessive disorder with clinical spectrum ranges from a male phenotype with hypospadias to a female phenotype. Many different mutations of SRD5A2 gene has been described in affected patients and clinical signs can vary depending on the degree of enzyme deficiency.Case presentation: 14-years-old girl admitted to our clinic because of feeling as a boy since 8-years-old. Parents were first degree cous...

The use of recombinant adeno-associated viruses (rAAV) as safe vectors have allowed hundreds of gene therapy attempts to treat monogenic diseases not including bone genetic diseases (Gao G, Nat Rev Drug Dis 2019). To our knowledge, there has been few attempts to apply gene therapy to monogenic bone diseases, largely because most skeletal malformations are being developed during fetal life. Patients affected with acrodysostosis are known to aggravate their skeletal malformation...

Background: X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome which is a clinical spectrum of ARX mutations is presented with severe growth deficiency, abnormal genitalia and resistant seizures in neonatal period. We present a XLAG case which was formed due to a new ARX mutation and has an appearance of a huge interhemispheric cyst different from classic neuroradiological imagings.Case: The case which was diagnosed with prenatal hydrocephal...

Background: Collodion babies (CBs) are an inherited group of diseases characterized clinically by diffuses severely dry and scaling skin. Patients are generally born prematurely and/or small for gestational age (SGA). Congenital hypothyroidism is seen together with various congenital anomalies, although the mechanism involved is still unclear.Objective and hypotheses: To identify endocrinological problems, and particularly those concerning growth, in 42 ...

Background: The main reason of decrement of growth in children with Prader-Willi Syndrome (PWS) is dysfunction of hypothalamo-hypophseal axis (HHA) and a decrease in the capacity of secretion of growth hormone (GH). In fact, in some cases, GH levels are normal, so there may be other factors in the etiology.Objective and hypotheses: In this study, 19 months old PWS case with growth failure is represented.Method: 13 months old male p...

Background: Phthalates are industrial chemicals extensively used as plasticizers in a variety of commercial products. Di-(2-ethylhexyl) phthalate (DEHP) is one of the most frequently used phthalates. DEHP is readily metabolized to mono-(2-ethylhexyl) phthalate (MEHP), which is more toxic than its parent compound. There are some animal and in vitro studies suggesting that phthalates can disrupt hypothalamus-pituitary-thyroid axis.Objective and hy...

Background and aim: Epidemiologic studies have been shown that obesity increases the risk of renal disease and it impact on prognosis. In this study, we aimed to investigate both glomerular and tubular involvement in asymptomatic obese children and to investigate the association of metabolic-anthropometric parameters with renal parameters.Material-method: Children with BMI ≥95th percentile and diagnosed as primary obesity (n=43) were inclu...

Background: ALS deficiency is characterized by mild short stature, delayed puberty, low serum IGF1, low serum IGFBP3 and undetectable serum ALS levels.Case: A 11.3 years old boy presented with short stature. He was born at term to consanguineous parents and the birth weight was unknown. On physical examination, his height and weight were 130.5 cm (−2.33 SDS) and 25.2 kg (−2.36 SDS) and he was prepubertal. The routine laboratory tests were nor...

Background: Hyperinsulinaemic Hypoglycaemia (HH) is a rare genetic disease and the treatment of HH in cases with unresponsiveness to medical therapy is subtotal pancreatectomy. In a recent study, the authors showed that sirolimus could be an alternative treatment in these patients. We aimed to evaluate the effectiveness of sirolimus in a newborn with HH.Case: A 10 day-old neonate presented with hyperinsulinaemic hypoglycaemia (glucose: 26 mg/dl, insulin:...