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Social media use has become an integral part of children's and adolescents' lives. It has become a novel way of interaction among people and influences people's social lives and public opinion as well as people's purchasing decisions and businesses. Any website or platform that allows social interaction is considered to be a social media site. Social media use among children in 25 European countries has been reported to be 38% among 9-12 year olds and 77% among those aged 13-16 years. All these children report having their own profile on at least one social network site. While social networking provides children and adolescents with many opportunities and benefits, it also carries many risks. Among the benefits are socialization and communication enhancement, improving learning skills, positive impact on education and getting health information. Potential risks of social media use include falsifying age and identity, cyberbullying, sexting, Facebook depression, gamification, glamourization, cyberostracism and sleep disturbances.Conclusion: Paediatricians play a vital role in promoting the physical, mental and social welfare of all children. There is a critical need for paediatricians to play an active role, guiding children and families appropriately through the impact of social networking, in order to become a real driver of children's development.
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Pediatría/métodos , Rol del Médico , Medios de Comunicación Sociales/estadística & datos numéricos , Adolescente , Conducta del Adolescente , Niño , Conducta Infantil , HumanosRESUMEN
Benign paroxysmal torticollis is probably an under-diagnosed condition of infancy. It is a self-limiting disorder characterised by periods of unusual, sustained posture of the head and neck, during which the head tilts to one side. Episodes are often accompanied by marked autonomic features, irritability, ataxia, apathy and drowsiness. They last several hours to a few days and are often recurring every few weeks. They subside within the pre-school years; however, during later childhood, there is a tendency to develop migraine. Three cases of benign paroxysmal torticollis are presented and are compared with cases in the literature. A telephone survey has been conducted to determine what is the general awareness of paediatricians of this condition in Cyprus. Eighty-two paediatricians were randomly selected out of 235 paediatricians. All of them agreed to participate. Our cases revealed that benign paroxysmal torticollis may coexist with other problems during infancy. The telephone survey showed that only two out of eighty-two (2.4%) of the paediatricians are aware of the condition, and none of them was confident regarding the management. Our telephone survey clearly shows that Cypriot paediatricians are not familiar with benign paroxysmal torticollis in infancy which is a benign, self-limiting disorder. It is essential to recognise the condition and to reassure parents of its benign course and not to be misdiagnosed for other disorders, such as epileptic seizures. We have shown again that benign paroxysmal torticollis in infancy may coexist with motor delay and hearing problems.
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Competencia Clínica/estadística & datos numéricos , Pediatría , Tortícolis/diagnóstico , Preescolar , Chipre , Diagnóstico Diferencial , Errores Diagnósticos , Femenino , Humanos , Lactante , Masculino , Encuestas y Cuestionarios , Tortícolis/complicaciones , Tortícolis/fisiopatología , Tortícolis/terapiaRESUMEN
This article describes the child healthcare system in Cyprus up to June 2019. Before that Cyprus used to be the only country in the European Union without a universal National Health System. Up to 2019 child healthcare in Cyprus consisted of two separate sectors: the public and the private system. The public healthcare system is financed by the government, while in the private sector the patients pay themselves or are covered by private insurance. There is easy access to acute medical care in the emergency departments of five public hospitals across the country. However, primary care is not available free-of-charge to all children. Primary healthcare is delivered in the paediatric outpatient departments of various public and private hospitals and clinics, as well as by numerous paediatricians within private practices. Secondary care is provided mainly in the public sector and to a lesser extent in private clinics. Tertiary care is available only centrally in the capital of Cyprus, at a dedicated university-affiliated maternity and children's public hospital with specialist paediatric services. Current major child health challenges in Cyprus include dealing with obesity, mental health, chronic illnesses, and vulnerable groups. However, the basic available health indicators for children show an improving trend over time. A national healthcare system was introduced at the end of 2017 and is expected to remove the inequalities and discrepancies that currently extend over the area of child health by tackling financial, quality, equity, efficiency, and effectiveness issues.
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BACKGROUND: Despite the fact that vaccines save 2-3 million lives worldwide every year, a percentage of children are not getting appropriately vaccinated, thus leading to disease outbreaks. One of the major reasons of low vaccine uptake in Europe is vaccine hesitancy, contributing to the recent measles outbreaks. Monitoring of vaccine hesitancy is valuable in early identification of vaccine concerns. METHODS: We performed an eighteen country European survey on parents' attitudes and behaviors regarding their children's immunization. Parents having at least one child 1-4 years old were mostly recruited by primary care paediatricians to reply to a web-based questionnaire. The questionnaire was developed by the European Academy of Paediatrics Research in Ambulatory Setting Network steering committee, based on similar surveys. An individual level hesitancy score was constructed using the answers to 21 questions, and correlations of the score with socio-demographic characteristics and types of providers were explored. To assess inter country differences, a country level self -reported confidence was defined. RESULTS: Fifty six percent and 24% of 5736 respondents defined themselves as "not at all hesitant", and "somewhat hesitant", respectively. Parents who consulted general practitioners were more hesitant than parents who consulted pediatricians (p < 0.05). Consultation with homeopathists was associated with the highest reported hesitancy (p < 0.05). Vaccine confidence was highest in Portugal and Cyprus, and lowest in Bulgaria and Poland. CONCLUSION: The majority of parents in Europe believe in the importance of childhood vaccination. However, significant lack of confidence was found in certain European countries, highlighting the need for continuous monitoring, awareness and response plans. The possible influence of different types of healthcare providers on parental decisions demonstrated for the first time in our survey, calls for further research. Monitoring and continuous medical education efforts aimed mostly at those professionals who might not be likely to recommend vaccination are suggested.
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Conocimientos, Actitudes y Práctica en Salud , Padres/psicología , Vacunación/psicología , Vacunas , Bulgaria , Preescolar , Chipre , Europa (Continente) , Humanos , Lactante , Polonia , Portugal , Encuestas y CuestionariosRESUMEN
Tea is the most widely consumed beverage after water in the world. The consumption of iced tea has increased in Western countries and spiked among teenagers for enjoyment, freshening up and alertness. A teenager presented with symptoms of hepatitis. Liver ultrasound revealed sludge in the gallbladder. Laboratory investigations excluded all known causes of hepatotoxicity. Detail nutritional history revealed that the patient had been drinking 1.5-2 liters of black iced tea per day for the last three months. He was immediately advised to stop drinking any tea. Gradually all symptoms disappeared and two months after discontinuation of the tea, all liver enzymes returned to normal and the sludge in the gallbladder disappeared. This case report underlines the importance of a meticulous assessment of a child's dietary behavior when investigating a case of hepatotoxicity and raises awareness about the potential side effects of tea overconsumption.
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Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy caused by mutations in the SLC12A3 gene. A female and a male sibling from two unrelated Greek-Cypriot families presenting with a severe salt-wasting tubulopathy due to compound heterozygous mutations of a novel duplication and a previously reported missense mutation in the SLC12A gene are described. Sanger sequencing was used to identify possible mutations in the SLC12A3 gene. For the detection of duplications/conversions and deletions in the same gene, Multiplex ligation probe amplification (MLPA) analysis was performed. Direct sequencing and MLPA analysis of the SLC12A3 gene identified two compound heterozygous mutations in both unrelated probands. Both probands were identified to carry in compound heterozygosity the known p.Met581Lys and a novelheterozygous duplication of exons 9-14 (E9_E14dup). The diagnosis of Gitelman syndrome was made through clinical assessment, biochemical screening and genetic analysis. The identification of the novel SLC12A3 duplication seems to be characteristic of Greek-Cypriot patients and suggests a possible ancestral mutational event that has spread in Cyprus due to a possible founder effect. Testing for Gitelman syndrome probable variants can be performed before proceeding to a full gene sequencing dropping the diagnostic cost. In addition, this report adds to the mutational spectrum observed.
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Efecto Fundador , Duplicación de Gen , Síndrome de Gitelman/genética , Heterocigoto , Niño , Preescolar , Femenino , Pruebas Genéticas , Síndrome de Gitelman/patología , Humanos , Masculino , Linaje , Fenotipo , Pronóstico , Miembro 3 de la Familia de Transportadores de Soluto 12/genéticaRESUMEN
Bone disease (BDT) represents a prominent cause of morbidity in patients of both sexes with thalassaemia major (TM). The exact pathogenesis of BDT in TM is multifactorial, still unclear and complicated. Peak bone mass is achieved shortly after completion of puberty and normally remains stable until the third decade of life. After the age of 30 years, age related bone loss begins. Growth hormone (GH) and sex steroids have a crucial role in bone remodelling and therefore are important in helping to establish and maintain peak bone mass for both sexes. The anabolic effects of GH and IGF-1 in bone are important not only for the acquisition of bone mass during adolescence but also for the maintenance of skeletal architecture during adult life. GH deficiency is not a rare finding in adult patients with TM, thus contributing to the development of BDT. Furthermore, patients with TM are often hypogonadal, and therefore the lack of sex steroids in critical periods, such as puberty, contributes to the failure to achieve optimal peak bone mass and to maintain bone mass later in life. Sex steroids probably act by increasing the expression of RANKL by osteoblastic cells, and alterations in the RANK/RANKL/OPG system in favour of osteoclasts are characteristic in TM, where the ratio of sRANKL/OPG is increased. It is still not clear whether DEXA scan is the gold standard for determination of bone density in thalassaemics and if so, whether the WHO criteria for defining osteopenia and osteoporosis are relevant to patients with TM. The question therefore arises whether other methods should be adopted, since DEXA may often overestimate BDT in these patients. BDT in thalassaemia represents a unique clinical entity with a multifactorial aetiology and of complex mechanisms which need to be clarified. It is essential for us to understand the underlying mechanisms of bone destruction and the bony defect at the ultrastructural level in order to be able to design not only preventive strategies but also therapeutic measures.
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Hormonas/metabolismo , Osteoporosis/metabolismo , Talasemia beta/metabolismo , Absorciometría de Fotón , Hormonas Esteroides Gonadales/metabolismo , Hormona de Crecimiento Humana/metabolismo , Humanos , Factor I del Crecimiento Similar a la Insulina/metabolismo , Osteoporosis/complicaciones , Osteoprotegerina/metabolismo , Ligando RANK/metabolismo , Talasemia beta/complicacionesRESUMEN
BACKGROUND: Bisphosphonates are potent inhibitors of osteoclastic bone resorption and have been recently used in thalassaemia major (TM) osteoporosis with encouraging results. OBJECTIVE: The aim of the study is to investigate the effect of two Bisphosphonate drugs, Alendronate and Pamidronate on bone mass in patients of both genders with TM, treated in our Center. SUBJECTS AND METHODS: 53 (22 males, 31 females) Thalassaemic patients of Greek Cypriot origin were randomly divided into two groups. 29 patients in group A with a mean age of 33, 32 years were treated with alendronate and 24 patients in group B with a mean age of 34, 36 years received pamidronate for a period of 2 years. The effectiveness of both drugs was estimated based on the change of Bone mineral density (BMD) values of lumbar spine and femoral neck. Bone mineral density (BMD) of lumbar spine and femoral neck was measured by dual-energy X-ray absiorptiometry. All patients were on the standard treatment protocol of Thalassaemia. Statistical analysis was performed with the SPSS program. RESULTS: After completion of treatment with pamidronate the mean lumbar spine BMD has improved from -2.813 to -2.174 (p<0.001) and the mean hip BMD from -2.138 to -2.078 (p=0.018). The change of spine BMD in patients who received alendronate was from -2.720 to -2.602 (p=0.059) and the changes in BMD at the femoral neck from -2.035 to -2.007 (p=0.829). CONCLUSIONS: This study demonstrates the efficacy of two bisphosphonate drugs in improving BMD values in patients with TM and osteoporosis. Since the origin of bone disease in TM is multifactorial and some of the underlying pathogenic mechanisms are still unclear, further research in this field is needed, which will allow the design of optimal therapeutic measures.
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Alendronato/uso terapéutico , Conservadores de la Densidad Ósea/uso terapéutico , Densidad Ósea/efectos de los fármacos , Difosfonatos/uso terapéutico , Osteoporosis/tratamiento farmacológico , Talasemia beta/complicaciones , Talasemia beta/tratamiento farmacológico , Absorciometría de Fotón , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Osteoporosis/etiología , Pamidronato , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: Pneumococcus is a common cause of invasive and non-invasive infections in children. In areas with high vaccination coverage, universal infant vaccination with conjugated pneumococcal vaccine (PCV) has significantly decreased the incidence of vaccine type nasopharyngeal carriage and invasive pneumococcal disease. The aim of this study is to examine immunization coverage rate and timely administration of the recently introduced PCV and compare to the established diphtheria-tetanus-acellular pertussis vaccine (DTaP) with similar schedule. METHODS: A stratified random sample of healthy infants and children 6-36â¯months of age were recruited. Demographic data were collected from parents. Among enrolled children, immunization status for DTaP and PCV was noted from the child's health booklet. RESULTS: Of 1105 children enrolled in the study, 586 (53%) were vaccinated in the private sector and the rest in the public sector. A significant higher proportion of children vaccinated at the private sector were fully vaccinated for PCV (71% versus 58%, pâ¯<â¯0.05) while no difference in the DTaP coverage was observed. Conversely, the compliance to the recommended vaccination schedule was much higher in the public sector for the first and second dose of PCV and second dose of DTaP. The overall, timely administration was higher for the DTaP vaccine when compared to PCV (pâ¯<â¯0.05). Moreover, adherence to the program was higher for the firstborn child of the family while significant differences were observed between different geographic regions. Interestingly, co-administration of DTaP and PCV was observed in only 2% of the children. CONCLUSION: In children residing in Cyprus, vaccination coverage and adherence to PCV vaccination schedule are significantly lower compared to the established DTaP vaccine. There is an urgent need for increasing the overall vaccination coverage as well as improving the adherence to vaccination schedule. Possible interventions are proposed.
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Vacunas contra Difteria, Tétanos y Tos Ferina Acelular/administración & dosificación , Cumplimiento de la Medicación/estadística & datos numéricos , Infecciones Neumocócicas/prevención & control , Vacunas Neumococicas/administración & dosificación , Vacunación/estadística & datos numéricos , Vacunas Conjugadas/administración & dosificación , Preescolar , Chipre/epidemiología , Difteria/inmunología , Difteria/prevención & control , Vacunas contra Difteria, Tétanos y Tos Ferina Acelular/inmunología , Femenino , Humanos , Esquemas de Inmunización , Lactante , Masculino , Nasofaringe/microbiología , Infecciones Neumocócicas/epidemiología , Infecciones Neumocócicas/inmunología , Vacunas Neumococicas/inmunología , Streptococcus pneumoniae/inmunología , Tétanos/inmunología , Tétanos/prevención & control , Vacunas Conjugadas/inmunología , Tos Ferina/inmunología , Tos Ferina/prevención & controlRESUMEN
A 12.6-year-old girl presented with a 2-month history of headache, recurrent vomiting and 5 kg weight loss. She had been receiving recombinant human growth hormone (rhGH) replacement therapy at a dose of 0.035 mg/kg for the past 10 months, due to short stature. Investigations before initiating rhGH, including brain MRI, had been normal. Physical examination revealed a nystagmus and a mildly elevated arterial blood pressure. Brain MRI revealed a lesion in the posterior aspect of the medulla oblongata, adjacent to the foramen of Magendie. rhGH therapy was discontinued, followed by a gradual resolution of the symptoms. At follow-up 3 months later, she was asymptomatic and physical examination was unremarkable. A subsequent repeat brain MRI showed complete resolution of the lesion, supporting the diagnosis of a variant of reversible posterior leucoencephalopathy syndrome. This is the first case report of a reversible brain lesion linked to rhGH replacement therapy.
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Hormona de Crecimiento Humana/administración & dosificación , Hormona de Crecimiento Humana/efectos adversos , Síndrome de Leucoencefalopatía Posterior/inducido químicamente , Proteínas Recombinantes/efectos adversos , Niño , Diagnóstico Diferencial , Femenino , Cefalea/etiología , Humanos , Imagen por Resonancia Magnética , Bulbo Raquídeo/diagnóstico por imagen , Proteínas Recombinantes/administración & dosificación , Vómitos/etiologíaRESUMEN
The objective of the study was to describe the incidence of pneumococcal nasopharyngeal carriage, serotype distribution and antibiotic resistance profile of pneumococcal nasopharyngeal isolates in healthy children aged 6 to 36 months following the implementation of conjugate vaccines. A nasopharyngeal swab was collected from 1105 healthy children following a stratified random sampling between September 2013 and April 2014. Demographics, vaccination status and data on possible risk factors were recorded. Isolates were serotyped and tested for antibiotic susceptibility. The nasopharyngeal carriage rate was 25.3%. Among 1105 children enrolled, 393 had received PCV13 and 685 PCV10. The prevailing isolated serotypes were: 23A (14.3%), 15A (8.9%), 6C (8.6%), 23B (7.5%), 19A (5.4%) and 15B (5%). The proportion of non-vaccine serotypes, PCV10 serotypes, PCV13 additional serotypes (3, 6A, 19A) was 76.8%, 2.1% and 10.4% respectively. Although children, who were fully or partially vaccinated with PCV13, were 63% less likely to be colonized with additional PCV13 serotypes compared to those vaccinated with PCV10, the difference is not significant (95%Cl = 0.14-1.02, p = 0.053). The highest antibiotic non-susceptible rates were found for erythromycin (28.2%) and penicillin (27.9%). The overall multidrug resistance rate was 13.2%, with serotypes 24F (4/6), 15A (14/25) and 19A (6/15) being the main contributors. Carriage rate was similar between children vaccinated with PCV10 or PCV13. The high incidence of 15A serotype which is also multidrug resistant should be underlined. Ongoing surveillance is needed to monitor the dynamics on nasopharyngeal carriage.
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Nasofaringe/microbiología , Infecciones Neumocócicas/prevención & control , Vacunas Neumococicas/inmunología , Streptococcus pneumoniae/aislamiento & purificación , Antibacterianos/farmacología , Portador Sano/epidemiología , Preescolar , Chipre/epidemiología , Farmacorresistencia Bacteriana/efectos de los fármacos , Eritromicina/farmacología , Femenino , Humanos , Lactante , Masculino , Pruebas de Sensibilidad Microbiana , Penicilinas/farmacología , Infecciones Neumocócicas/epidemiología , Infecciones Neumocócicas/microbiología , Factores de Riesgo , Serogrupo , Streptococcus pneumoniae/efectos de los fármacos , Vacunación , Vacunas ConjugadasRESUMEN
X-linked nephrogenic diabetes insipidus (NDI) is a rare disease characterized by a malfunctioning renal response to the antidiuretic hormone arginine vasopressin (AVP) due to mutations in the AVPR2 gene. A limited number of mutations in the AVPR2 gene resulting in partial phenotype have been described so far. In this mini-review the retrospective analysis of 13 known AVPR2 mutations that have been previously shown in vitro to partially abolish AVPR2 function is described, along with a novel mutation diagnosed in a kindred with partial NDI. In the present study, a 14 year old male and his 73 year old maternal grandfather were diagnosed with partial NDI based on the clinical phenotype, the water deprivation test and the inadequate response to 1-desamino-8-d-arginine vasopressin (DDAVP) administration. Sequencing analysis of the AVPR2 gene revealed the novel missense mutation p.N317S (g.1417A > G) in both patients. This mutation was re-created by site directed mutagenesis in an AVPR2 cDNA expression vector and was functionally characterized, in terms of arginine vasopressin (AVP) and DDAVP response. AVPR2 activity of the p.N317S mutant receptor after the AVP and DDAVP administration, as assessed by cAMP production was reduced and impaired when compared to cells that expressed the wild type AVPR2 gene. In conclusion, the affected members of this family have X-linked NDI with partial resistance to AVP, due to a missense mutation in the AVPR2 gene.
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Diabetes Insípida Nefrogénica/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Mutación Missense , Receptores de Vasopresinas/genética , Adolescente , Anciano , Secuencia de Bases , Desamino Arginina Vasopresina , Diabetes Insípida Nefrogénica/diagnóstico , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Humanos , Masculino , Datos de Secuencia Molecular , Análisis de Secuencia de ADNRESUMEN
OBJECTIVE: The incidence of Type 1 diabetes mellitus (T1DM) in Greek-Cypriot children aged less than 15 years between 1990 and 2009 was examined along with gender differences concerning the age of onset and the seasonal variation at manifestation of the disease. DESIGN: All newly diagnosed cases of T1DM in children less than 15 years old were registered with the capture-recapture method from 1990 until 2009. RESULTS: The overall mean annual incidence during these 20 years is 12.46 per 100,000. A comparison of the incidence between the two decades (1990-1999 vs 2000-2009) indicated a rising trend, from 10.80 per 100,000 person-years during the first decade to 14.44 per 100,000 person-years during the second decade. There was an overall male predominance (M/F: 1.05), which is in agreement with the male predominance in the population less than 15 years of age, except for the group who manifested T1DM at ages 10-15 years where females prevail. The percentage of children who developed T1DM at ages 0-5 years in the total T1DM population increased in the second decade (26.4% vs 19.0%), and significantly more children were diagnosed during the cold months as opposed to the warm months (p<0.001). CONCLUSION: The incidence of T1DM in Cyprus is rising. The identification of causative environmental factors will theoretically explain this phenomenon and new preventive strategies can therefore potentially be developed.
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Diabetes Mellitus Tipo 1/epidemiología , Adolescente , Niño , Preescolar , Chipre/epidemiología , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Factores de TiempoRESUMEN
The clinical, biochemical and genetic features of a Cypriot origin male of non-consanguineous parents due to 17ß-hydroxysteroid dehydrogenase type 3 (17ß-HSD-3) deficiency are presented. The patient, currently a 10 old male, was referred to our clinic because of ambiguous genitalia at birth. Gonads were palpable in the inguinal canal bilaterally and no Müllerian structures identified on pelvic ultrasound. Chromosomal analysis showed an apparently normal male 46,XY karyotype. Diagnosis of 17ß-HSD-3 deficiency in the newborn was suspected based on biochemical findings, following human chorionic gonadotrophin (hCG) stimulation test. Sequence analysis and real time PCR along with MLPA identified the patient with a novel 11.96 kb duplication that spans exons 3-10 of the HSD17B3 gene and extends from intron 2 to intron 10 in compound heterozygosity with the known p.R80Q missense mutation leading to 17ß-HSD-3. In conclusion, 17ß-HSD-3 deficiency was diagnosed in this patient based on endocrinologic evaluation and confirmed with genetic analysis of the HSD17B3 gene. The novel large duplication spanning exons 3-10 of the HSD17B3 gene that we report here in compound heterozygosity with the known p.R80Q leads to 17ß-HSD-3 deficiency presenting as 46,XY Disorder of Sex Development. Following diagnosis and appropriate genetic counselling, the patient was raised a boy and successfully underwent surgical correction of crytptorchidism and hypospadias.
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17-Hidroxiesteroide Deshidrogenasas/genética , Trastornos del Desarrollo Sexual/genética , Duplicación de Gen , 17-Hidroxiesteroide Deshidrogenasas/deficiencia , Niño , Análisis Mutacional de ADN , Trastornos del Desarrollo Sexual/diagnóstico , Trastornos del Desarrollo Sexual/patología , Exones , Humanos , Masculino , Mutación MissenseRESUMEN
AIM: Hereditary endocrinopathies in Cyprus exhibit evidence of a founder effect and display the influence of past migration patterns. The genetic frequency and mutation pattern of a specific disorder of sex development (DSD), which is classified as 46,XX DSD or 46,XY DSD, and the non-classic form of congenital adrenal hyperplasia (NC-CAH) outline a type of genetic drift. RESULTS: Not only the high prevalence of the NC-CAH p.V281L mutation but also the rarity of CAH large lesions present a genetic diversity similar to that observed in the Middle Eastern countries. In addition, both the high frequency of the 5-alpha steroid reductase deficiency (5αSRD) IVS1-2A>G mutation and the carrier frequency of the 17-beta hydroxysteroid dehydrogenase 3 (17ß-HSD-3) p.R80Q mutation are good examples of a founder effect. p.R80Q can be considered a founder mutation, even though it has been identified in patients of Dutch, Brazilian, and Portuguese origin. This has led to the speculation that it has a Phoenician origin. Phoenicians as ancient traders migrated around 750 BC from present day Syria, Lebanon, and Israel toward Portugal, Spain, and also to nearby Cyprus. While the 5αSRD IVS1-2A>G mutation has already been extensively reported in Turkish patients, it is very common in the Eastern Mediterranean region. CONCLUSION: This short article portrays clearly, through specific endocrine genetic disorders, the past migration trends in Cyprus that shaped the present-day gene pool of the Greek-Cypriot population.
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Hiperplasia Suprarrenal Congénita , Trastornos del Desarrollo Sexual , Enfermedades del Sistema Endocrino/epidemiología , Enfermedades del Sistema Endocrino/genética , Efecto Fundador , Población Blanca/genética , Hiperplasia Suprarrenal Congénita/epidemiología , Hiperplasia Suprarrenal Congénita/genética , Chipre , Trastornos del Desarrollo Sexual/epidemiología , Trastornos del Desarrollo Sexual/genética , Enfermedades del Sistema Endocrino/clasificación , Femenino , Humanos , MasculinoRESUMEN
OBJECTIVES: The aim of this study was to identify the molecular defect in a group of 37 unrelated Greek Cypriot patients affected by NC-CAH and evaluate the relationship between the genotype, phenotype and adrenal androgen levels. DESIGN AND METHODS: Clinical evaluation, biochemical analysis of 17-OHP, Testosterone, Androstenedione, DHEA-S, direct DNA sequencing and MLPA analyses. RESULTS: Eleven known mutations were identified with the p.V281L being the most predominant and observed in 68.9% of the alleles. There was no difference between the two genotypes (mild/mild and mild/severe) with clinical presentation, whereas a proportional relationship between the type of mutation and adrenal androgen levels was found. CONCLUSION: The frequency of the underlying genetic defect in our patients with NC-CAH is similar to that observed in most Mediterranean populations. Although the genotype cannot solely explain the clinical expression of NC-CAH, discrimination between mild and severe alleles is crucial in antenatal diagnosis and genetic counselling.
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Hiperplasia Suprarrenal Congénita/genética , Esteroide 21-Hidroxilasa/genética , 17-alfa-Hidroxiprogesterona/sangre , Adolescente , Hiperplasia Suprarrenal Congénita/diagnóstico , Adulto , Androstenodiona/sangre , Niño , Chipre , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Haplotipos , Humanos , Masculino , Mutación , Índice de Severidad de la Enfermedad , Testosterona/sangreRESUMEN
BACKGROUND: The clinical spectrum of 5α-reductase deficiency, caused by mutations in the SRD5A2 gene, ranges from complete female appearance of the external genitalia at birth to nearly complete male phenotype. CASE REPORT: A 14-year-old girl presented with primary amenorrhea (PA) and lack of breast development. She was 173 cm in height, had an increased amount of pubic hair and clitoromegaly (3 cm), with a 4 cm blind vaginal pouch. Gonads were palpable in the inguinal canal bilaterally and no uterus was identified on ultrasound. Chromosomal analysis showed a 46,XY karyotype. The Testosterone/DHT ratio was high (16.5) and further increased to 29.4 after stimulation with hCG, thus favouring the diagnosis of 5α-reductase deficiency. Since the issue of gender change was not considered, gonadectomy was performed followed by successful feminisation with hormonal replacement therapy. GENETIC STUDIES: Molecular analysis of the SRD5A2 gene by DNA sequencing of all 5 exons revealed the presence of the splice mutation A>G at position -2 of the acceptor site of intron 1/exon 2 (IVS1-2A>G) in homozygosity. Both non-consanguineous parents were found to be heterozygotes for this mutation. CONCLUSIONS: Although rare, SRD5A2 gene defect should be suspected in any girl presenting with PA and virilisation at puberty. The IVS1-2A>G mutation of the SRD5A2 gene predominates in Greek-Cypriot patients with 5α-reductase deficiency and very likely reflects a founder effect.