RESUMO
BACKGROUND: Y chromosome material stands as an independent risk determinant for the onset of gonadoblastoma (GB) and subsequent gonadal germ cell tumours in individuals with Turner syndrome (TS). However, the delayed and underestimated identification of Y chromosome material through karyotyping within primary care settings exacerbates the intricacies of managing these patients over the long term. METHODS: We present a case involving TS accompanied by Y chromosome material, wherein puberty delay and GB were identified during prophylactic gonadectomy. Subsequently, we delve into the literature to explore the GB-related malignancy risk in TS patients with Y chromosome material, the incidence of Y chromosome presence in TS patients using methodologies beyond routine chromosomal testing, and the diagnosis and treatment of puberty delay in TS patients, all based on our case. RESULTS: A spectrum of more sensitive molecular techniques, including polymerase chain reaction (PCR) and fluorescence in situ hybridisation, effectively augments the detection of Y chromosome material alongside karyotyping. In addition to gonadectomy, the implementation of appropriate oestrogen therapy and a holistic, multidisciplinary approach to care can enhance the quality of life, while mitigating the long-term morbidity and mortality risks for TS patients harbouring Y chromosome material. CONCLUSIONS: Beyond gonadectomy, adopting a multifaceted approach the Y chromosome material detection, prompt initiation of puberty, tailored oestrogen therapy, and coordinated multidisciplinary management significantly contributes to the comprehensive health oversight of TS patients with Y chromosome material.
Assuntos
Gonadoblastoma , Neoplasias Ovarianas , Síndrome de Turner , Feminino , Humanos , Síndrome de Turner/complicações , Síndrome de Turner/genética , Gonadoblastoma/genética , Gonadoblastoma/complicações , Gonadoblastoma/diagnóstico , Qualidade de Vida , Puberdade , Neoplasias Ovarianas/genética , EstrogêniosRESUMO
In Turner syndrome (TS) one X-chromosome is missing or defective. The amelogenin gene, located on the X-chromosome, plays a key role during the formation of dental enamel. The aim of this study was to find support for the hypothesis that impaired expression of the X-chromosome influences mineral incorporation during amelogenesis and, indirectly, during dentinogenesis. Primary tooth enamel and dentin from girls with TS were analysed and compared with the enamel and dentin of primary teeth from healthy girls. Qualitative and quantitative changes in the composition of TS enamel were found, in addition to morphological differences. Higher frequencies of subsurface lesions and rod-free zones were seen in TS enamel using polarized light microscopy. Similarly, scanning electron microscopy showed that the enamel rods from TS teeth were of atypical sizes and directions. Using X-ray microanalysis, high levels of calcium and phosphorus, and low levels of carbon, were found in both TS enamel and dentin. Using microradiography, a lower degree of mineralization was found in TS enamel. Rule induction analysis was performed to identify characteristic element patterns for TS. Low values of carbon were the most critical attributes for the outcome TS. The conclusion was that impaired expression of the X-chromosome has an impact on dental hard tissue formation.
Assuntos
Esmalte Dentário/química , Dentina/química , Dente Decíduo/química , Síndrome de Turner/metabolismo , Amelogênese/genética , Cálcio/análise , Carbono/análise , Cromossomos Humanos X/genética , Esmalte Dentário/ultraestrutura , Dentina/ultraestrutura , Dentinogênese/genética , Microanálise por Sonda Eletrônica , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Cariotipagem , Bases de Conhecimento , Microrradiografia , Microscopia Eletrônica de Varredura , Microscopia de Polarização , Minerais/análise , Oxigênio/análise , Fósforo/análise , Calcificação de Dente/genética , Dente Decíduo/ultraestrutura , Síndrome de Turner/genética , Síndrome de Turner/patologiaRESUMO
Short stature is the major characteristic of Turner syndrome. The statural appeal is premature and become evident in the puberty. Haploinsufficiency of SHOX gene has been related as main factor on final height of these patients. Despite the majority of the patients are not growth hormone deficient, the GHr therapy improves the final height. Recently, a great number of publications have described the association between GH and cancer. The cancer risk, in these patients, is mainly associated with the presence of Y chromosome sequences that can lead to the gonadoblastoma development. In conclusion, the GHr therapy in ST patients deserves caution. The investigation of Y chromosome sequences should be performed as well as the prophylactic gonadectomy in the positive cases conferring confidence to the treatment.
Assuntos
Nanismo/tratamento farmacológico , Proteínas de Homeodomínio/genética , Hormônio do Crescimento Humano/uso terapêutico , Neoplasias/etiologia , Síndrome de Turner/tratamento farmacológico , Nanismo/genética , Feminino , Impressão Genômica , Gonadoblastoma/genética , Hormônio do Crescimento Humano/efeitos adversos , Humanos , Neoplasias Ovarianas/genética , Polimorfismo Genético , Proteína de Homoeobox de Baixa Estatura , Síndrome de Turner/complicações , Síndrome de Turner/genéticaRESUMO
A baixa estatura é a principal característica na síndrome de Turner (ST). O agravo estatural na ST é precoce e torna-se mais evidente na puberdade. A haploinsuficiência do gene SHOX tem sido implicada como principal fator na definição da estatura de mulheres, no entanto, ainda que a maioria das pacientes não tenha deficiência do hormônio de crescimento, a terapia com GHr melhora a altura final. Recentemente, tem-se chamado a atenção para a associação entre GH e câncer. O risco de câncer nessas pacientes está associado à presença de fragmentos do cromossomo Y que pode levar ao desenvolvimento de gonadoblastoma. Dessa forma, a administração de GHr na ST deve ser feita com cautela. A investigação de seqüências do cromossomo Y deve ser realizada, bem como a gonadectomia profilática nos casos positivos, conferindo maior segurança ao tratamento.
Short stature is the major characteristic of Turner syndrome. The statural appeal is premature and become evident in the puberty. Haploinsuficiency of SHOX gene has been related as main factor on final height of these patients. Despite the majority of the patients are not growth hormone deficient, the GHr therapy improves the final height. Recently, a great number of publications have described the association between GH and cancer. The cancer risk, in these patients, is mainly associated with the presence of Y chromosome sequences that can lead to the gonadoblastoma development. In conclusion, the GHr therapy in ST patients deserves caution. The investigation of Y chromosome sequences should be performed as well as the prophylactic gonadectomy in the positive cases conferring confidence to the treatment.
Assuntos
Feminino , Humanos , Nanismo/tratamento farmacológico , Proteínas de Homeodomínio/genética , Hormônio do Crescimento Humano/uso terapêutico , Neoplasias/etiologia , Síndrome de Turner/tratamento farmacológico , Nanismo/genética , Impressão Genômica , Gonadoblastoma/genética , Hormônio do Crescimento Humano/efeitos adversos , Neoplasias Ovarianas/genética , Polimorfismo Genético , Síndrome de Turner/complicações , Síndrome de Turner/genéticaRESUMO
OBJECTIVE: The loss of the X chromosome in girls with Turner syndrome (TS) affects the shape and the size of craniofacial structures. Few studies have been reported on female patients with TS in South America. Records of odontologic alterations of 23 Argentinian patients with TS were compared with those of 25 girls in a control group, and associations were made with medical indications. STUDY DESIGN: Oral clinical diagnoses were completed with periapical, occlusal, panoramic, and orthopantomograms; urine and blood determinations were performed by conventional methods. RESULTS: Blood phosphorus and calcium levels were altered, and osteoporosis was detected. In some patients, TS was associated with autoimmune thyroiditis. Control subjects had normal blood and urine values. The decayed, missing, and filled permanent surfaces index for temporary teeth was statistically higher for the control group. About 78% of the patients had hypoplasia, 65% had reduced root length and bifurcated roots, and 100% had high arch palate. Incisor asymmetry was also observed. CONCLUSIONS: Medical and laboratory indexes are essentially indicative of hormone alterations. TS patients have a particular oral anatomy that could be closely related to an alteration in calcium and phosphorus metabolism.
Assuntos
Doenças da Boca/complicações , Doenças Dentárias/complicações , Síndrome de Turner/complicações , Adolescente , Adulto , Argentina , Cálcio/sangue , Cálcio/urina , Criança , Pré-Escolar , Índice CPO , Suscetibilidade à Cárie Dentária , Hipoplasia do Esmalte Dentário/complicações , Índice de Placa Dentária , Suscetibilidade a Doenças , Feminino , Humanos , Incisivo/anormalidades , Lactente , Doenças da Boca/diagnóstico por imagem , Osteoporose/diagnóstico por imagem , Palato/anormalidades , Doenças Periodontais/complicações , Índice Periodontal , Fósforo/sangue , Fósforo/urina , Radiografia Interproximal , Radiografia Panorâmica , Estatística como Assunto , Tireoidite Autoimune/complicações , Doenças Dentárias/diagnóstico por imagem , Raiz Dentária/anormalidades , Síndrome de Turner/sangue , Síndrome de Turner/genética , Síndrome de Turner/urinaRESUMO
We report a rare case of Turner's syndrome (UTS) due to a gonosomal mosaic 45,X0/46,XY with the main clinical feature of several fractures in the course of osteoporosis. The bone mineral density (BMD) of the lumbar spine and the hip measured by DXA showed osteoporosis. The other clinical investigations including laboratory parameters presented beside an estrogen deficiency due to primary amenorrhea, a small thyroid with hypothyroidism, increased renal calciuria and increased markers of bone metabolism. Beside the supplementation of estrogen and thyroid hormone deficits, only a combination of different bone-associated drugs could normalize the bone mineral density and the bone turnover. During a two years' follow-up period no further fractures occurred. Furthermore, theories regarding the occurrence of osteoporosis and other complex pathologies in UTS are discussed with the conclusion that osteopenia in UTS is probably based on a multifactorial genesis. Due to these complex pathologies during adulthood, patients with UTS should get multidisciplinary care in order to reduce morbidity and preserve quality of life.
Assuntos
Estrogênios/deficiência , Hipotireoidismo/etiologia , Mosaicismo , Osteoporose/genética , Síndrome de Turner/complicações , Cromossomo X/genética , Adulto , Amenorreia/etiologia , Feminino , Fraturas Ósseas/etiologia , Fraturas Ósseas/prevenção & controle , Terapia de Reposição Hormonal , Humanos , Cariotipagem , Osteoporose/complicações , Osteoporose/fisiopatologia , Osteoporose/terapia , Síndrome de Turner/genéticaRESUMO
From 6 to 15% of the patients with Turner syndrome have a mosaic karyotype, i.e. a 45,X cell line and another with a small sex chromosome marker of undetermined origin which may be a ring or a centric fragment. It is important to establish whether this marker chromosome derives from a Y chromosome as this implies that the patient has a high risk of developing gonadoblastoma. The objective of the present paper was to identify the origin of small sex chromosome markers using fluorescence in situ hybridization (FISH). Eight patients were studied; seven had a Turner phenotype and one had a short stature with ambiguous genitalia. In all cases karyotype in peripheral lymphocytes showed mosaicism, with one cell line that had a sex chromosome marker, and in three cases, the mosaicism was corroborated in fibroblast cultures. Biotin labeled DNA probes with complementary centromeric alpha-satellite sequences of chromosomes X and Y were used in the FISH technique. In seven patients the chromosome marker came from the X chromosome as established with the X chromosome alpha-satellite probe. In the patient with ambiguous genitalia, the marker did derive from the Y chromosome. We conclude that the FISH technique proved to be useful to establish the origin of sex chromosome markers in our laboratory.
Assuntos
Marcadores Genéticos , Hibridização in Situ Fluorescente , Mosaicismo , Síndrome de Noonan/genética , Síndrome de Turner/genética , Cromossomo X/ultraestrutura , Cromossomo Y/ultraestrutura , Adolescente , Células Cultivadas , Criança , Pré-Escolar , Bandeamento Cromossômico , Feminino , Fibroblastos/patologia , Predisposição Genética para Doença , Gonadoblastoma/genética , Humanos , Lactente , Cariotipagem , Linfócitos/patologia , Masculino , Síndrome de Noonan/patologia , Neoplasias Ovarianas/genética , Síndrome de Turner/patologiaRESUMO
We report here the first case of an association between thalassemia major, hemochromatosis, hypogonadotrophic hypogonadism and Turner's syndrome. The patient is an Albanese girl born in 1980; thalassemia major was diagnosed at 1 year and she was started on a transfusion program; in 1987 iron chelation therapy was started. Six years ago, at 7 years of age, her short stature was observed and she was referred to the endocrinology clinic for evaluation; the basal and stimulation tests done at that time failed to reveal growth hormone deficiency, hypothyroidism or any other disease. Nevertheless, at 12 years old, she was still prepubertal and there was a bone age delay of 1.5 years; a gonadotropin-releasing hormone (GnRH) stimulation test showed no response of either FSH (basal: 0.2 mU/ml; peak: 0.8 mU/ml) or LH (basal: < 0.1 mU/ml; peak: 0.6 mU/ml), suggesting hypogonadotrophic hypogonadism. Small dysmorphies called our attention to the possibility of Turner's syndrome which was confirmed by the karyotype (45 XO/46 XX). In this patient, thalassemia major and its lifelong consequences, namely the hemochromatosis-related hypogonadotrophic hypogonadism, masked the usual hormonal findings of Turner's syndrome.
Assuntos
Hemocromatose/etiologia , Hipogonadismo/etiologia , Síndrome de Turner/complicações , Talassemia beta/complicações , Adolescente , Feminino , Hormônio Foliculoestimulante/sangue , Hormônio Liberador de Gonadotropina/farmacologia , Hemocromatose/sangue , Humanos , Hipogonadismo/sangue , Cariotipagem , Hormônio Luteinizante/sangue , Tireotropina/sangue , Síndrome de Turner/sangue , Síndrome de Turner/genética , Talassemia beta/sangueRESUMO
Many neuropsychiatric disorders differ between the sexes in incidence, symptoms, and age at onset. To investigate the effects of X-chromosome aneuploidy and of sex steroid deficiency during childhood on brain structure and function, we used neuropsychological tests and quantitative magnetic resonance imaging (MRI) to study the brains of eighteen women with Turner's syndrome (TS) and nineteen healthy control women of similar age. Nine TS subjects had mosaic 45,X karyotypes, and 9 had non-mosaic 45,X. The TS group had significantly lower scores than the controls for all the Wechsler adult intelligence scale tests, except verbal comprehension and reading level. The greatest difference was in visuospatial construction (mean 90 [SD12] vs 118 [13], p < 0.0001). The TS subjects also had a greater discrepancy than controls between verbal and performance intelligence quotients (9 [8] vs -5 [9], p < 0.001). We found that TS subjects had significantly smaller values than controls in MRI-measured volumes of hippocampus, caudate, lenticular, and thalamic nuclei, and parieto-occipital brain matter, on both sides. Women with mosaic TS had values between the full TS and control groups for cerebral hemisphere and lenticular and thalamic nuclei volume and for verbal ability. Within the mosaic TS group, visuospatial ability was significantly correlated with the percentage of lymphocytes that had the 45,X karyotype. Hippocampal volume and memory test scores were significantly lower in mosaic and non-mosaic 45,X TS subjects than in controls. We postulate that in human beings the X chromosome plays an important part in the development and ageing of grey matter in striatum, diencephalon, and cerebral hemispheres.
Assuntos
Aneuploidia , Encéfalo/patologia , Síndrome de Turner/genética , Cromossomo X , Adulto , Córtex Cerebral/patologia , Estrogênios/administração & dosagem , Feminino , Hormônios Esteroides Gonadais/deficiência , Hipocampo/patologia , Humanos , Testes de Inteligência , Imageamento por Ressonância Magnética , Testes Neuropsicológicos , Progestinas/administração & dosagem , Tálamo/patologia , Hormônios Tireóideos/administração & dosagem , Síndrome de Turner/patologia , Síndrome de Turner/psicologiaRESUMO
In studying the radioprotective action of natural and synthesised antioxydants a decreased yield of chromosome aberrations with respect to those in untreated cells was noted in normal cells irradiated in phase G1 whereas no radioprotective effect was found in cells irradiated in G0. The addition of antioxydants into the cell cultures from patients with Turner's syndrome did not change their radiosensitivity. No adaptive response was induced in lymphocytes from patients with Down's syndrome cultivated with vitamin E.
Assuntos
Antioxidantes/farmacologia , Síndrome de Down/genética , Protetores contra Radiação/farmacologia , Síndrome de Turner/genética , Adaptação Fisiológica/efeitos dos fármacos , Adaptação Fisiológica/efeitos da radiação , Adolescente , Adulto , Células Cultivadas/efeitos dos fármacos , Células Cultivadas/efeitos da radiação , Aberrações Cromossômicas , Relação Dose-Resposta à Radiação , Avaliação Pré-Clínica de Medicamentos , Feminino , Humanos , Lactente , Linfócitos/efeitos dos fármacos , Linfócitos/efeitos da radiação , Masculino , Vitamina E/farmacologiaRESUMO
A study of 22 769 consecutive live births in a Nigerian hospital has revealed the incidence of Turner's syndrome to be 1 in 2745 live females. Shortness of stature and neck, low posterior hair line, broad chest with widely spaced rudimentary nipples, congenital lymphoedema, redundant lax neck skin and hypoplastic nails were the most common clinical features. Birth weight was above 2.5 kg in only five of the fourteen cases in which this measurement was taken. Associated renal and cardiovascular anomalies occurred in 87.5 and 45% of the cases respectively. While neither parental age nor the birth rank of the patients were contributory factors in the causation of the syndrome, ingestion of traditional medicinal concoctions during the pregnancy which appeared to have played a role in four out of the sixteen cases requires further studies.