Recommendations for Diagnosis, Treatment, and Management of Individuals with Turner Syndrome

Rosenfeld, Ron G.; Tesch, Lynn-Georgia; Rodriguez‐Rigau, Luis J.; McCauley, Elizabeth; Albertsson‐Wikland, Kerstin; Asch, Ricardo H.; Cara, José; Conte, Felix A.; Hall, Judith G.; Lippe, Barbara M.; Nagel, Theodore C.; Neely, E. Kirk; Page, David C.; Ranke, Michael B.; Saenger, Paul; Watkins, John M.; Wilson, Darrell M.

doi:10.1097/00019616-199409000-00006

Cited by 58 publications

(31 citation statements)

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“…For cases of mosaicism involving a small marker chromosome in addition to a 45,X cell line, FISH is performed with X and Y centromeric probes to identify the chromosomal origin of the marker chromosome, and in some cases [Hook, 1977]. A recent recommendation by a panel of experts brought together through the Turner's Syndrome Society of the United States suggests screening UTS individuals for Y chromatin [Rosenfeld et al, 1994]. We predict that FISH analysis in patients with UTS will identify cases with low-level mosaicism for Y-chromatin.…”

Section: Discussionmentioning

confidence: 99%

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

et al. 2000

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The presence of Y chromatin in individuals with Ullrich-Turner syndrome (UTS) confers a risk for gonadoblastoma. In mosaic cases, little is known about Y chromatin distribution in gonads. Fluorescence in situ hybridization (FISH) is a direct approach to assess the extent of Y chromatin mosaicism in gonads. Gonadal tissue from four patients with mosaic karyotypes were analyzed by routine cytogenetics and FISH with X and Y centromere probes. Y chromatin was present in gonads in varying percentages in these patients. The distribution of Y chromatin in gonads of UTS individuals did not completely correlate with that found in blood lymphocytes. The finding of Y chromatin in the blood samples from these patients prompted the development of a screening strategy in our cytogenetics laboratory to detect low-level Y chromatin mosaicism in patients with UTS.

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Section: Discussionmentioning

confidence: 99%

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

et al. 2000

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“…In addition to short stature, it is characterized by infertility and a variable spectrum of somatic features including heart and renal abnormalities, micrognathia, high-arched palate, short metacarpals and Madelung deformity [23]. Since Léri-Weill dyschondrosteosis shares several phenotypic characteristics with Turner syndrome, it seemed conceivable that SHOX mutations could also account for additional somatic features in Turner syndrome.…”

Section: Shox In Turner Syndromementioning

confidence: 99%

SHOX in Short Stature Syndromes

Blaschke¹,

Rappold²

2001

Horm Res Paediatr

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Linear growth is a multifactorial trait that is influenced and regulated by a combination of environmental and internal factors. Among the intrinsic determinants of final body height, genetic factors have become more and more prominent, and the list of genes involved in growth-related processes has been extended accordingly. One of the most exciting additions to this list is represented by the discovery of the pseudoautosomal gene SHOX. Originally described as a gene responsible for idiopathic short stature, it has become clear that SHOX mutations can also cause mesomelic short stature and Madelung deformity in Léri-Weill syndrome. In addition, recent studies implicate SHOX haploinsufficiency in a variety of somatic Turner syndrome stigmata.

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“…Nestas reuniões procuramos enfatizar a necessidade de visitas para exames de rotina nas clínicas cardiológica, ginecológica, endocrinológica e otorrinolaringológica com avaliação do perfil lipídico, glicídi -co, bioquímico e da função tireoidiana anual. Avaliação da massa óssea e audiometria bianual e realização do ecocardiograma de 5 em 5 anos, conforme sugerido pela literatura (23,24). AGRADECIMENTO À Profa.…”

Section: Discussionunclassified

Intercorrências clínicas na Síndrome de Turner

Guimarães

Guerra

Alves

et al. 2001

Arq Bras Endocrinol Metab

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RESUMONeste trabalho descrevemos as malformações e co-morbidades observadas em pacientes com síndrome de Turner (ST). Foi realizado um estudo retrospectivo, avaliando os prontuários de 60 pacientes cujo diagnóstico de ST foi confirmado através do cariótipo, desde a fase pré-natal até a idade de 49 anos. As pacientes encontram-se com idades entre 1 e 50 anos e foram evoluídas num período de 4 meses a 29 anos. Trinta e uma apresentavam o cariótipo 45XO, 24 eram mosaico e 5 apresentavam o padrão 46Xi, (i,Xq). Todas tinham baixa estatura e algum tipo de estigma. Cinco (8,3%) não apresentavam outras malformações congênitas e eram saudáveis; 55 (91,6%) apresentavam doenças associadas, sendo que em 23 (38,3%) foram detectadas doenças endócrinas, em 16 (26,6%) otorrinolaringológicas, 15 (25%) cardiológicas, 14 (23,3%) nefrológicas e 6 (10%) gastrointestinais. Entre as doenças endócrinas mais comuns, observamos hipotireoidismo (36,6%), seguido de osteoporose (18,3%) e hiperlipemia (11,6%). As doenças otorrinolaringológicas mais comuns foram as infecções (otite média e amigdalite); das doenças cardiológicas, as valvulopatias (principalmente aorta bicúspi-de), das nefrológicas as duplicações do sistema coletor e rotações renais e das gastrointestinais foram observados dois casos de divertículo de Meckel. Encontramos maior prevalência de malformações cardía-cas nas pacientes com cariótipo 45XO, embora sem significância estatística quando considerados os demais cariótipos. Concluímos que, devido à alta ocorrência de doenças nesta síndrome, estas devem ser acompanhadas periodicamente em diferentes especialidades. ABSTRACTA retrospective study was held on data of 60 patients with Turner's Syndrome (TS), aiming to report the most prevalent diseases in this syndrome. Diagnosis was confirmed by kariotype from the prenatal period to the age of 49 years. At the time of the study the age of the patients ranged from 1 to 50 years, and they were observed during 4 months to 29 years. Thirty-one patients presented 45XO kariotype, 24 were mosaic and 5 were 46Xi, (i,Xq). All presented with low stature and some stigmas. Five (8.3%) did not present other diseases and are currently healthy. In 55 (91.6%) the following associate diseases were observed: 23 (38.3%) had endocrine, 16 (26.6%) ear, throat and nose, 15 (25%) cardiologic, 14 (23.3%) renal and 6 (10%) gastrointestinal diseases. The most common endocrine diseases were hypothyroidism (36.6%), osteoporosis (18.3%) and hyperlipidemia (11.6%). The most frequent ear, nose and throat diseases were infections (media otitis and tonsillitis). Congenital diseases of the aorta valve (bicuspid aorta valve) and double collecting systems with renal rotation were the most prevalent cardiac and renal diseases, respectively. Two patients had a diagnosis of Meckel's diverticulum. Although congenital diseases were more common in 45XO patients, no artigo original

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Recommendations for Diagnosis, Treatment, and Management of Individuals with Turner Syndrome

Cited by 58 publications

References 0 publications

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

SHOX in Short Stature Syndromes

Intercorrências clínicas na Síndrome de Turner

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