hrp0092p1-334 | Fat, Metabolism and Obesity (2) | ESPE2019

ADCY3 Genetic Variants in Cypriot Obese Children

Frixou Maria , Fanis Pavlos , Skordis Nicos , Stylianou Charilaos , Tanteles George A , Toumba Meropi , Neocleous Vassos , Phylactou Leonidas A , Pantelidou Maria

Background: The adenylate cyclase 3 (ADCY3) gene encodes a membrane-associated protein involved in the formation of cyclic adenosine monophosphate (cAMP) from adenosine triphosphate (ATP). This gene seems to be is involved in the regulation of several metabolic processes and has been recently associated to pathophysiological metabolic conditions. Several ADCY3 variants have been linked with obesity in children.M...

hrp0089p2-p387 | Thyroid P2 | ESPE2018

Phenotype and Genotype of Four Patients with Thyroid Hormone Resistance Syndrome due to Mutations in the THRB Gene

Toumba Meropi , Neocleous Vassos , Fanis Pavlos , Skordis Nicos , Phylactou Leonidas A , Tanteles George A , Kyriakidou-Himonas Marinella , Picolos Michalis

Background: Resistance to thyroid hormone (RTH) is a dominantly inherited rare disorder (1:40000) mainly due to mutations in the THRB gene that lead to a decreased end-organ responsiveness to thyroid hormone. Clinical and molecular characteristics of four patients with RTH are described.Patients and methods: Four patients from three non-related families were studied; two boys (8.3 and 9.2 years old) and 2 adults (35 year old male and 27 year old...

hrp0092p1-394 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Next Generation Sequencing in GnRH Deficient Patients with Congenital Hypogonadotrophic Hypogonadism: Novel Findings in KAL1, SRA1, WDR11, FGFR1, CHD7 and PROP1 Genes

Neocleous Vassos , Fanis Pavlos , Toumba Meropi , Cinarli Feride , Schiza Melpo , Stylianou Charilaos , Tanteles George A , Oulas Anastasios , Spyrou George M , Skordis Nicos , Phylactou Leonidas A

Abstract: Objective: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by GnRH deficiency and characterized by absent or incomplete puberty with infertility. The identification of the genetic cause in this group of patients through the use of next generation sequencing (NGS) can assist to the clinical management.Methods: Seven GnRH deficient nonrelated Cypriot probands were ...

hrp0095p1-358 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pathogenic and Low-Frequency genetic determinants in children with Central Precocious Puberty

Fanis Pavlos , Toumba Meropi , A Tanteles George , Iasonides Michalis , C Nicolaides Nicolas , Nicolaou Stella , Kyriakou Andreas , Neocleous Vassos , A Phylactou Leonidas , Skordis Nicos

Background: Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height as well as psychological consequences. So far only a limited number of genetic determinants have been associated with the pathogenesis in children with CPP. In this original research, rare sequence variants in MKRN3, DLK1, KISS1, and KISS1R genes were i...

hrp0089rfc5.5 | Thyroid | ESPE2018

Evidence for a Founder Effect in Multiple Endocrine Neoplasia 2

Fanis Pavlos , Skordis Nicos , Frangos Savvas , Christopoulos George , Spanou-Aristidou Elena , Andreou Elena , Manoli Panayiotis , Mavrommatis Michalis , Nicolaou Stella , Kleanthous Marina , Cariolou Marios A , Christophidou-Anastasiadou Violetta , Tanteles George A , Phylactou Leonidas A , Neocleous Vassos

Purpose: Multiple Endocrine Neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refer to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017.Methods and Patients: Forty patients underwent RET testing by Sanger sequencing of exons 10–11 and 13–16. Genotyping with STR genetic markers ...

hrp0089p2-p016 | Adrenals and HPA Axis P2 | ESPE2018

The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis

Skordis Nicos , Fanis Pavlos , Toumba Meropi , Stylianou Charilaos , Picolos Michalis , Andreou Elena , Kyriakou Andreas , Yiannakide-Myli Lambrini , Iasonides Michalis , Nicolaou Stella , C Kyriakides Tassos , Tanteles George A , Neocleous Vassos , Phylactou Leonidas A

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is worldwide the most common autosomal recessive disorder caused by defects in the CYP21A2 gene.Objective: The main objective of the study was to evaluate CAH in Cyprus over a 10 year period.Methods: All known patients were included in a population retrospective subset analysis of Cypriot patients with confirmed CAH and their clinica...