hrp0092p3-190 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Structural Pituitary Abnormality and Dysfunction Associated with Charge Syndrome

Karachaliou Feneli , Skarakis Nikitas , Mitrogiorgou Marina , Simatou Aristophania , Papaevangelou Vassiliki

Background: CHARGE is an autosomal-dominant syndrome which includes a variable combination of coloboma of the eye, heart malformations, atresia of the choanae, retardation of growth and development, and genital and ear abnormalities CHARGE syndrome has rarely been associated with anterior pituitary dysfunction and with structural abnormalities of the pituitary gland only twice. We report the case of a child with CHARGE association and congenital hypopituitaris...

hrp0082p1-d3-167 | Growth (2) | ESPE2014

Aromatase Inhibitors in Girls: Anastrazole Combined to an LHRH Analogue is a Safe and Effective Strategy in Girls with Early or Precocious Puberty with Compromised Growth Potential

Papadimitriou Dimitrios T , Dermitzaki Eleni , Papaevangelou Vassiliki , Papadimitriou Anastasios

Background: Third generation aromatase inhibitors have been used to increase predicted adult height (PAH) in boys but in girls only in McCune–Albright syndrome.Objective and hypotheses: We overcame the theoretical concern of secondary hyperandrogenism by combining anastrazole to an LHRH analogue in a 6-year prospective study to test whether the combination therapy could significantly improve PAH compared to inhibition of puberty alone.<p class="...

hrp0092p1-74 | GH and IGFs | ESPE2019

Recombinant GH Treatment in Child with Pseudopseudohypoparathyroidism Associated with Growth Hormone Deficiency

Karachaliou Feneli , Skarakia Nikitas , Mitrogiorgou Marina , Simatou Aristophania , Peppa Melpomeni , Papaevangelou Vassiliki

Background: Pseudopseudohypoparathyroidism (PPHP) is a rare variant of pseudohypoparathyroidism (PHP) type I, with typical anatomical abnormalities known as Albright's hereditary osteodystrophy (AHO)(short stature, brachydactyly particularly involving metacarpals and metatarsals, round face, stocky build, ectopic ossifications and a number of possible associated defects), but with normal calcium, phosphate and PTH levels and normal response to exogenous PT...

hrp0092p2-40 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Reduced Bone Mineral Density in Children with Inflammatory Bowel Disease without Exposure to Corticosteroid Treatment

Mitrogiorgou Marina , Karachaliou Feneli , Skarakis Nikitas , Simatou Aristophania , Peppa Melpomeni , Fessatou Smaragdi , Papaevangelou Vassiliki

Objectives: Bone mineral density is reduced in children and adolescents with inflammatory bowel disease (IBF). The exact cause of this reduction is not known and is often attributed to corticosteroid use. The aim of the study was to evaluate bone mineral density in children with IBF without previous corticosteroid exposure.Methods: Twelve children aged 8-17years with IBF (8 with Crohn's disease and 4 with ulcerative ...

hrp0086p1-p19 | Adrenal P1 | ESPE2016

Heterozygous Mutations in CYP11A1 Gene can Cause Life-Threatening Salt Wasting and Failure to Thrive

Papadimitriou Dimitrios T. , Bothou Christina , Willems Patrick J. , Zarganis Diagoras , Papaevangelou Vassiliki , Papadimitriou Anastasios

Background: Cytochrome P450 side-chain cleavage enzyme (CYP11A1 gene) catalyses the conversion of cholesterol to pregnenolone in steroidogenic cells, the first step in the biosynthesis of all steroid hormones. SCC deficiency has been established as an autosomal recessive disorder caused by inactivating homozygous or compound heterozygous mutations in the CYP11A1 gene, with a wide phenotypic spectrum ranging from prematurity, complete underandrogenization and severe early-onset...

hrp0086p2-p308 | Diabetes P2 | ESPE2016

The Autoimmune Hypothesis for Acute Bilateral Cataract in Type 1 Diabetes

Papadimitriou Dimitrios T , Bothou Christina , Skarmoutsos Filippos , Alexandrides Theodoros K , Papaevangelou Vassiliki , Papadimitriou Anastasios

Background: Cataract as a chronic complication of diabetes is well established in the literature and the risk factors are also well known. However, rare cases of acute bilateral cataract have been reported, all of them happening relatively shortly after diagnosis in T1DM. While the pathophysiology of this phenomenon remains unclear – as a lot of different theories proposed so far with the most accepted being the osmotic stress induced oxidative damage – fail to expla...