hrp0082p2-d2-282 | Adrenals & HP Axis (1) | ESPE2014

Steroid 11β-Hydroxylase Deficiency Due to CYP11B1 Mutations in Females with Hyperandrogenemia

Shammas Christos , Byrou Stefania , Phedonos Alexia AP , Nicolaou Stella , Toumba Meropi , Skordis Nicos , Neocleous Vassos , Phylactou Leonidas A

Background: More than >90% of cases of congenital adrenal hyperplasia (CAH) are caused by 21-hydroxylase deficiency, steroid 11β-hydroxylase deficiency accounts for 5–8% of cases.Objective and hypotheses: To seek evidence on the prevalence of CYP11B1 mutations in prepubertal girls, adolescents and adult females with clinical signs of hyperandrogenemia.Method: The study included 31 girls with premature adrenar...

hrp0089fc13.1 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Molecular Screening of Genes Associated with Central Precocious Puberty

Fanis Pavlos , Neocleous Vassos , Toumba Meropi , Gorka Barbara , Stylianou Charilaos , Galli-Tsinopoulou Assimina , Nicolaou Stella , Kyriakou Andreas , Dimitriadou Meropi , Christoforidis Athanasios , Skordis Nicos , Phylactou Leonidas A

Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis through the activation of the gonadotropin releasing hormone (GnRH). Gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function mutations of the makorin RING-finger protein 3 (MKRN3) have been linked with CPP. Moreover intronic and intragenic variants harbouring the imprinted loci of MKRN3-MAGEL2 and DLK1 g...

hrp0086p1-p730 | Pituitary and Neuroendocrinology P1 | ESPE2016

MKRN3 Mutations and Central Precocious Puberty

Neocleous Vassos , Toumba Meropi , Sevastidou Maria , Phelan Marie M , Shammas Christos , Nicolaou Stella , Stylianou Charilaos , Christoforidis Athanasios , Fanis Pavlos , Phylactou Leonidas A , Skordis Nicos

Background: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis and increasing evidence suggests a genetic origin. Premature activation of the GnRH secretion in CPP may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.Objective and hypotheses: To identify loss-of-...

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...