A5019096693- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Hemoglobinopathies and Related Disorders
- Hormonal and reproductive studies
- Growth Hormone and Insulin-like Growth Factors
- Iron Metabolism and Disorders
- Diabetes and associated disorders
- Pancreatic function and diabetes
- Pharmacological Effects and Toxicity Studies
- Diabetes Management and Research
- Chromosomal and Genetic Variations
- Hypothalamic control of reproductive hormones
- Thyroid Cancer Diagnosis and Treatment
- Bone health and treatments
- Birth, Development, and Health
- Thyroid Disorders and Treatments
- Urological Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- Neuroendocrine Tumor Research Advances
- Ovarian function and disorders
- Neurogenetic and Muscular Disorders Research
- Genomics and Chromatin Dynamics
- Genetic Syndromes and Imprinting
- Dermatological and Skeletal Disorders
- Ion Transport and Channel Regulation
University of Nicosia
2015-2025
Cyprus Institute of Neurology and Genetics
2015-2024
Archbishop Makarios III Hospital
2006-2023
St George's, University of London
2023
Hamad Medical Corporation
2013-2014
Santobono Children's Hospital
2014
Primary Health Care
2014
Ain Shams University
2014
New York University
2014
Nicosia General Hospital
2010
In 46,XY disorders of sex development, 5α-reductase deficiency is rare and not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to partial androgen insensitivity syndrome. Yet cause genitalia may guide assignment, rapid, precise essential.The aim study was describe relevant data for clinical diagnosis, biological investigation, molecular determination from 55 patients with srd5A2 mutations identified our laboratory over 20 yr improve early diagnosis.The...
The current management of thalassemia includes regular transfusion programs and chelation therapy. It is important that physicians be aware endocrine abnormalities frequently develop mainly in those patients with significant iron overload due to poor compliance treatment, particularly after the age 10 years. Since quality life a fundamental aim, it vital monitor carefully their growth pubertal development order detect initiate appropriate early treatment. Abnormalities should identified...
Estrogens are involved in a number of physiological functions, including the development brain, growth, reproduction and metabolism. The biological actions estrogens achieved by binding to estrogen receptors (ERs) numerous types tissues. ERα ERβ belong nuclear receptor superfamily G‑protein coupled ER1 (GPER1) is membrane receptor. primary biologically active estrogen, 17β‑estradiol demonstrates high affinity for ERs. Mechanistically, bind ERs nucleus, complex then dimerize response elements...
Osteoporosis in thalassaemia major (TM) represents a prominent cause of morbidity. The mechanism pathogenesis bone disease (BD) TM is multifactorial and complicated. Peak mass achieved shortly after completion puberty normally remains stable until the third decade life when age-related begins. Growth hormone (GH) sex steroids play crucial role remodeling maintenance skeletal architecture during adult life. GH insulin growth factors (IGFs) have anabolic effect formation. Sex act probably by...
<b><i>Background/Aims:</i></b> Increasing numbers of children and adolescents seek medical care because they experience incongruence between their physical sex gender identity. <b><i>Methods:</i></b> The ESPE working group on dysphoria (GD) undertook a survey to investigate the structure type in centers that offer specialist for transgender adolescents. <b><i>Results:</i></b> personnel each center varied from country...
Abstract A mosaic karyotype consisting of a 45,X cell line and second containing normal or an abnormal Y chromosome is relatively common associated with wide spectrum clinical phenotypes. The aim this study was to investigate patients such for material loss then the possible association absence these regions phenotype, diagnosis, Y‐chromosome instability. We studied 17 clinically well‐characterized whose consisted chromosome. presence centromere verified by fluorescence in situ hybridization...
Article High Prevalence of Congenital Hypothyroidism in the Greek Cypriot Population: Results Neonatal Screening Program 1990- 2000 was published on May 1, 2005 journal Journal Pediatric Endocrinology and Metabolism (volume 18, issue 5).
Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed use the best available evidence community partnerships produce patient education materials for congenital hypogonadotropic hypogonadism (CHH) olfacto-genital (Kallmann) syndrome (i.e., CHH defective sense of smell), evaluate end-user acceptability. Expert clinicians, researchers patients co-created in a multi-step process. Six validated algorithms were...
The onset of puberty is influenced by the interplay stimulating and restraining factors, many which have a genetic origin. Premature activation GnRH secretion in central precocious (CPP) may arise either from gain-of-function mutations KISS1 KISS1R genes or loss-of-function manner MKRN3 gene leading to deficiency.To explore causes responsible for CPP potential role RING finger protein 3 (MKRN3) gene.We investigated sequence variations intronless Sanger sequencing entire 507 amino acid coding...
Background: Central Precocious Puberty (CPP) is clinically defined by the development of secondary sexual characteristics before age 8 years in girls and 9 boys. To date, mutations coding region KISS1, KISS1R, PROKR2, DLK1, MKRN3 genes have been reported as causative for CPP. This study investigated presence both promoter 5'-UTR regions gene. Methods: Sanger DNA sequencing was used screening proximal gene a group 73 index with Mutations identified were cloned luciferase reporter vectors...
Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by Gonadotropin-Releasing Hormone (GnRH) deficiency. So far limited number of variants in several genes have been associated with the pathogenesis disease. In this original research and review manuscript retrospective analysis known ANOS1 (KAL1), RNF216, WDR11, FGFR1, CHD7 POLR3A described, along novel identified patients CHH present study. Methods: Seven GnRH deficient unrelated Cypriot underwent...
Increasing numbers of transgender and gender diverse adolescents seek endocrine treatment to align their body identity. In this relatively young field medicine, there is a limited evidence, the available evidence generally low quality. However, in absence randomised trials, much can be learned from prospective observational studies. While on somatic psychosocial outcomes has increased recent years, areas with little or no research rely expert opinion. order reduce practice variation...
The clinical severity in thalassaemia major (TM) depends on the underlying mutations of beta-globin gene and degree iron overload.The aim study was to investigate impact genotype development endocrine complications TM our center.126 (62 males, 64 females) thalassaemic patients Greek Cypriot origin with a mean age 31.2 (17-68) yr were included study. All patients, who standard treatment protocol, subsequently divided into two groups according their genotype, group A (92): no mitigating factor...
The recently described DNA replication-based mechanisms of fork stalling and template switching (FoSTeS) microhomology-mediated break-induced replication (MMBIR) were previously shown to catalyze complex exonic, genic genomic rearrangements. By analyzing a large number isochromosomes the long arm chromosome X (i(Xq)), using whole-genome tiling path array comparative hybridization (aCGH), ultra-high resolution targeted aCGH sequencing, we provide evidence that FoSTeS MMBIR can generate...