Adult Height in Turner Syndrome: Results of a Multinational Survey 1993

Ranke, Michael B.; Grauer, M L

doi:10.1159/000184154

Cited by 54 publications

(49 citation statements)

References 9 publications

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“…11,12 Short stature is almost universal. 13 Additional features are common [14][15][16][17][18][19][20] and are listed in Table 1. Interestingly, the individual's phenotype appears to be dependent on the exact genotype and even the parental origin of the remaining X chromosome.…”

Section: Systemic Featuresmentioning

confidence: 99%

Ophthalmic features of Turner's syndrome

Denniston

Butler

2004

Eye

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Turner's syndrome is one of the most common of all chromosomal abnormalities and is associated with significant ophthalmic morbidity. Turner's 1938 account included two patients with strabismus, and hitherto the condition has generated more interest among orthoptists than ophthalmologists. This systematic review of the literature seeks to redress the balance. Based on the pooled data of 274 patients with Turner's syndrome, it is the most complete evaluation so far of the prevalence and severity of ophthalmic problems in this population. This includes both a systematic review of the ophthalmic literature (via Medline) and the much larger body of work available in the orthoptic literature. Finally, we consider recent progress that enables the ophthalmologist to progress from the simple recognition of a phenotype to the correlation of genotypic variations with embryogenesis and consequent features of that phenotype.

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Section: Systemic Featuresmentioning

confidence: 99%

Ophthalmic features of Turner's syndrome

Denniston

Butler

2004

Eye

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“…One of the most significant features of the syndrome is short stature. Untreated adults are reported to be approximately 20 cm shorter than normal females within their respective populations [2]. Growth hormone (GH) has been used to accelerate growth, and has been known to increase adult height [3].…”

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Trends in Age and Anthropometric Data at Start of Growth Hormone Treatment for Girls with Turner Syndrome in Japan

et al. 2008

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Abstract. The purpose of this study is to evaluate the trends in age and anthropometric data for girls with Turner syndrome (TS) at start of growth hormone (GH) treatment in Japan. The data for analysis were obtained from a retrospective cohort, the Foundation for Growth Science, Japan. We analyzed trends in starting age of GH treatment for girls with TS in Japan after dividing subjects (n = 1,478) into three registration periods: 1991-1994, 1995-1999 and 2000-2004. We also assessed the ratio of the subpopulation of subjects under five years of age. As results, the mean age (standard deviation (SD)) at start of GH treatment was significantly different among the three groups (10.95 (3.63), 10.15 (3.39) and 8.78 (3.61), p<0.0001). The proportion of the subjects under five years of age increased significantly over time (5.11%, 7.11% and 16.85%, p<0.0001). Mean (SD) height SD scores were also significantly different (-3.41 (0.87), -3.26 (0.81) and -3.17 (0.79), p<0.0001). However, the proportions of the karyotype of 45,X were not significantly different among the three groups (p = 0.25). We concluded that age and shortness at initiation of GH treatment had been improving over time. However, these favorable trends have not fully met the conditions recommended by international clinical guidelines for TS.

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“…Os estudos de proporções corporais em ST são escassos e freqüentemente preocupam-se apenas com a altura final (6)(7)(8)11,(13)(14)(15)(16)(17)(18)(19)(20). Poucos estudos avaliaram outras variáveis antropométricas, destacando-se entre estes os de Bösze e cols.…”

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Proporções corporais em um grupo de pacientes brasileiras com Síndrome de Turner

Baldin¹,

Armani²,

Morcillo³

et al. 2005

Arq Bras Endocrinol Metab

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RESUMOObjetivo: Trata-se do primeiro estudo brasileiro com o objetivo de avaliar as proporções corporais de pacientes com síndrome de Turner (ST) não tratadas com hormônio de crescimento. Métodos: Estudo transversal de 50 pacientes com ST (5 a 43 anos), avaliando-se idade, cariótipo, desenvolvimento puberal e medidas de estatura em pé e sentada, envergadura, peso, IMC, perímetro cefálico, mão e pé, perna, relação entre cintura e quadril, diâmetros biacromial e bi-ilíaco. Transformação dos dados em escore z de desvio-padrão. Realizada análise descritiva e aplicados o teste de Mann-Whitney e a análise de variância. Resultados: Não foram observadas diferenças das variáveis em relação aos carióti-pos: 22 eram impúberes e 28 púberes, e todas as variáveis em valores absolutos foram significativamente maiores na puberdade. Não foram observadas diferenças em relação aos escores z das variáveis analisadas em relação à puberdade. Todas as variáveis apresentaram escores z médios acima de -2, com exceção da estatura em pé e envergadura nas impúberes e também da estatura sentada e da mão nas púberes. O mesmo foi observado quando se analisou as 15 pacientes com idade > 20 anos, sendo apenas o peso, o IMC e os diâmetros biacromial e bi-ilíaco significativamente menores que os dados dinamarqueses de Gravholt e Naeera de 1997. Conclusão: O comprometimento de crescimento na ST ocorre fundamentalmente no eixo longitudinal, e os resultados observados neste estudo são comparáveis aos dinamarqueses. Objective: The first Brazilian study aimed to evaluate body proportions in patients with Turner Syndrome (TS) with no growth hormone treatment. Methods: A cross-sectional study with 50 TS patients (5 to 43 years) evaluating age, karyotype, pubertal development, height, sitting height, arm span, weight, BMI, head circumference, length of hand, foot and leg, waist to hip ratio, biacromial and biiliac diameters. The data were transformed in score z. A descriptive analysis was done and Mann-Whitney test and analysis of variance was applied. Results: Twenty-eight patients were pubertal and 22 nonpubertal, and all of the absolute measurements were significantly increased in the former. There were no significant differences of the antropometric findings according to the karyotype and puberty, in relation to score z data. The SD scores of all variables showed means above -2, except height and arm span in the nonpubertal patients and also sitting height and hand in the pubertal patients. The same result was observed when only the patients > 20 years artigos originais

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Adult Height in Turner Syndrome: Results of a Multinational Survey 1993

Cited by 54 publications

References 9 publications

Ophthalmic features of Turner's syndrome

Ophthalmic features of Turner's syndrome

Trends in Age and Anthropometric Data at Start of Growth Hormone Treatment for Girls with Turner Syndrome in Japan

Proporções corporais em um grupo de pacientes brasileiras com Síndrome de Turner

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