Meropi Toumba

Learn More
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many(More)
Osteoporosis in thalassaemia major (TM) represents a prominent cause of morbidity. The mechanism of pathogenesis of bone disease (BD) in TM is multifactorial and complicated. Peak bone mass is achieved shortly after completion of puberty and normally remains stable until the third decade of life when age-related bone mass begins. Growth hormone (GH) and sex(More)
INTRODUCTION The incidence of type 1 diabetes mellitus (T1DM) has dramatically increased recently in some countries. AIM To ascertain any changes in the incidence of T1DM in our population during the years 1990-2004. METHODOLOGY All newly diagnosed cases of T1DM children under the age of 15 yr were registered and relevant information was obtained.(More)
Therapeutic advances in thalassaemia major have significantly increased the average lifespan and improved the quality of life in thalassaemic patients. Therefore attainment of reproductive capacity and creation of a family has become a great task. Endocrine complications due to haemosiderosis and especially hypogonadotrophic hypogonadism are still present(More)
Bone is a dynamic organ, constantly changing metabolically and being remodelled through the balanced activity of osteoclast and osteoblast on trabecular surfaces. Osteoporosis represents a continuum, in which multiple pathogenic mechanisms converge to cause loss of bone mass and deterioration of microarchitecture of skeletal structure. In thalassaemia major(More)
Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene and the spectrum of mutations among Greek-Cypriots with FMF-related symptoms was examined. Sequence analysis for exons 2, 3, 5, and 10 of the MEFV gene was performed in a cohort of 593 patients. A total of 70 patients carried mutations in the homozygote or compound heterozygote(More)
BACKGROUND The aim of this study was to determine the beneficial effects of long-term growth hormone (GH) treatment on final height (FH) in 26 children with Russell-Silver syndrome (RSS). METHODS Twenty-six patients (16 males) were diagnosed with RSS at a median age of 2.9 years according to clinical criteria. All patients were prepubertal at the(More)
ObJECTIvE: heterozygous mutations on the melanocortin-4-receptor gene (MC4R) are the most frequent cause of monogenic obesity. We describe a novel MC4R deletion in a girl with severe early onset obesity, tall stature, pale skin and red hair. CaSE REpORT: Clinical and hormonal parameters were evaluated in a girl born full-term by non-consanguineous parents.(More)
OBJECTIVE To evaluate the results of the screening program for congenital hypothyroidism (CH) in the Greek Cypriot population. CHILDREN AND METHODS During 1990-2000, 109,532 neonates were screened by TSH determination. Permanent CH was proven with biochemical findings after discontinuation of treatment for scintigraphy at the age of 3 years. RESULTS(More)
OBJECTIVE The purpose of this study is to evaluate the impact of chronic iron overload and genotype on gonadal function in women with thalassaemia major. PATIENTS AND METHODS The study population consists of 101 women aged 15-48 years who were treated between 1981 and 1999. These women were divided into two groups according to their genotype: [A=no(More)