hrp0089p1-p018 | Adrenals and HPA Axis P1 | ESPE2018

Young Lean Women with Evidence of Both Premature Adrenarche and Pubarche Display a Metabolic, Hormonal and Psychologic Profile that is Similar to that of their Peers with Polycystic Ovary Syndrome

Livadas Sarantis , Bothou Christina , Kanaka-Gantenbein Christina , Chiotis Dimitrios , Angelopoulos Nicholas , Macut Djuro , Chrousos George P

Context: The early activation of adrenal zona reticularis, denoted by increased circulating levels of adrenal androgens before the age of eight years in girls is called premature adrenarche (PA), while the concomitant appearance of pubic hair is termed premature pubarche (PP). Girls with PA-PP display an unfavorable metabolic, hormonal and psychologic profile, compared to their normal peers and are also at an increased risk of developing polycystic ovary syndrome (PCO...

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...

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...

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...

hrp0089p3-p405 | Multisystem Endocrine Disorders P3 | ESPE2018

Lessons from Wolfram Syndrome: Initiation of DDAVP Therapy Causes Renal Salt Wasting due to Elevated ANP Levels, Rescued by Fludrocortisone Treatment

Kleanthous Kleanthis , Maratou Eirini , Spyropoulou Dora , Dermitzaki Eleni , Bothou Christina , Papadimitriou Anastasios , Zoupanos George , Moutsatsou Paraskevi , Urano Fumihiko , Papadimitriou Dimitrios T.

Background-Hypothesis: Sudden initiation of treatment for diabetes insipidus (DI) with DDAVP causes abrupt volume expansion resulting in particularly high secretion of Atrial Natriuteric Peptide (ANP) (1). ANP blocks all stimulators of zona glomerulosa steroidogenesis, resulting in secondary mineralocorticoid deficiency and acute hyponatremia, causing renal salt wasting (RSW) (2). Cases: Two sisters, a 19-year-old girl (A) and a 7-year-old girl (B) with Wolfra...