hrp0089p1-p187 | Growth & Syndromes P1 | ESPE2018

A Novel Deadly Variant in the TP53 Gene Causing Li-Fraumeni Syndrome. The Importance of Clinical Awareness and the Contribution of Molecular Diagnosis in Active Prevention Within Families with Multiple Tumor Incidents at a Young Age

Bothou Christina , Spyridis Georgios P , Papantonatos Dionysios A , Stratakis Constantine A , Papadimitriou Dimitrios T

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

hrp0089p2-p290 | Multisystem Endocrine Disorders P2 | ESPE2018

Successful Treatment of Severe Atopic Dermatitis with Calcitriol and Paricalcitol in an 8-Year Old Girl

Bothou Christina , Alexopoulos Alexis , Dermitzaki Eleni , Kleanthous Kleanthis , Papadimitriou Anastasios , Mastorakos George , Papadimitriou Dimitrios T

Atopic dermatitis (AD) is a chronic inflammatory disease affecting children and adolescence. The traditional therapeutic options for AD, including emollients topically and immune modulatory agents systemically focusing on reducing skin inflammation and restoring the function of the epidermal barrier, are proven ineffective in many cases. Several studies have linked vitamin D supplementation with either a decreased risk to develop AD or a clinical improvement of the symptoms of...

hrp0089p1-p201 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Anastrozole is Safe as Monotherapy in Early Maturing Girls with Compromised Growth, Further Improving Gain in Predicted Adult Height by the Initial Combination Therapy of an LHRH Analogue and an Aromatase Inhibitor: Results from the ‘Gail’ Study ISRCTN11469487

Dermitzaki Eleni , Kleanthous Kleanthis , Papagianni Maria , Attilakos Achilleas , Mastorakos George , Papadimitriou Anastasios , Papadimitriou Dimitrios T

Background: Third generation aromatase inhibitors (AI) have never been used as monotherapy, except for Mc Cune-Albright syndrome and autonomous ovarian cysts, to increase predicted adult height (PAH) in girls, mainly due to the theoretical concern of hyperandrogenism. Our previously published GAIL study [J Endocrinol Invest. 2016 Apr;39(4):439–46] has shown that the combination of anastrozole to an LHRH analogue for 24 months is safe and effective in ameliorating PAH in g...

hrp0089lb-p16 | Late Breaking P1 | ESPE2018

Successful Treatment of Alopecia Totalis with Calcitriol and Paricalcitol in Two Girls Aged 3 and 7-Years

Papadimitriou Dimitrios T , Bothou Christina , Dermitzaki Eleni , Kleanthous Kleanthis , Karkavitsas Konstantinos , Mastorakos George , Papadimitriou Anastasios

Backgound: Alopecia areata (AA) or Alopecia Totalis (AT) is an autoimmune disease directed at the hair follicle, either limited to patchy hair loss over the scalp (focalis), or as total loss of scalp hair (totalis) or as total loss of both scalp and body hair (universalis). Management can be challenging, and despite multiple treatment modalities, no therapy still stands. While localized AA may respond well to topical corticosteroids, many patients require more aggressive secon...

hrp0086rfc1.1 | Adrenals | ESPE2016

Tracing the Glucocorticoid Receptor Evolutionary Pedigree: Insights from a Comprehensive Phylogenetic Analysis of the Full NR Super-Family

Vlachakis Dimitrios , Nicolaides Nicolas C. , Papageorgiou Louis , Lamprokostopoulou Agaristi , Charmandari Evangelia

Background: The nuclear receptor (NR) family comprises three main subfamilies: the steroid hormones receptors, the thyroid/retinoid hormone receptors and the orphan receptors. Proteins within the NR family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth and development. Despite their biological significance, their evolution and diversification remains to be elucidated....

hrp0086rfc15.8 | Late Breaking | ESPE2016

Replacement of Male Mini-Puberty

Papadimitriou Dimitrios T. , Chrysis Dionysios , Zoupanos Georgios , Nyktari Georgia , Liakou Eleni , Papadimitriou Anastasios

Background: Hormonal replacement in boys with congenital HH remains a challenge. Micropenis has been traditionally successfully treated with 3 monthly injections of testosterone enanthate before the age of 2, but when bilateral cryptorchidism coincides, surgery is required. But even after a successful surgery, the hypoplastic testes with the deficient proliferation of immature Sertoli cells, due mainly to the lack of the male mini-puberty in the neonatal period as well as the ...

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-p63 | Adrenal P2 | ESPE2016

The Evolution of Bone Age in Girls with Premature Adrenarche

Marakaki Chrysanthi , Theodoropoulou Sophia , Papadimitriou Dimitrios T , Dermitzaki Eleni , Papadimitriou Anastasios

Background: In premature adrenarche (PA) children bone age (BA) may be greater than chronological age (CA), however final height is usually within target height (TH).Objective and hypotheses: Aim of the study was to evaluate the evolution of BA in girls with PA.Method: We studied retrospectively the files of 60 girls with PA followed in our unit. Anthropometric data and Tanner pubertal status were determined in each visit and BA wa...

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...

hrp0086p2-p516 | Fat Metabolism and Obesity P2 | ESPE2016

4G Polymorphism of Plasminogen Activator Inhibitor-1 (PAI-1), PAI-1 Plasma Levels, and Lipid Profiles in Overweight/Obese Children and Adolescents

Karabouta Zacharoula , Makedou Areti , Papandreou Dimitrios , Argiriou Anagnostis , Xanthopoulou Helen , Rousso Israel , Athanassiadou-Piperopoulou Fani

Background: Studies have shown that PAI-1 4G polymorphism is related to increased plasma PAI-1 levels, obesity, dyslipidaemia and cardiovascular disease (CVD) in adults. Few studies have explored that relationship in overweight/obese (Ow/Ob) children/adolescents.Objective and hypotheses: We investigated the relation between plasma PAI-1 levels, PAI-1 4g polymorphisms and lipid profiles in Ow/Ob children/ adolescents compared with healthy normal ...