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

Abstract

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

<p>Anthropometric variables as cardiovascular risk predictors in a cohort of adult subjects with Turner syndrome</p>

“…While these parameters have been previously assessed in other studies, the currrent analysis was performed in a well-defined population of TS women (≥20 years old) and the results were compared to that of a sex-, age- and BMI-matched reference group. In concordance with previous studies,3,4,22,23 our TS subjects not only presented with altered anthropometry, but also with altered body composition.…”

“…This disorder is one the most common human chromosomal abnormalities, occurring in approximately 1:2500 live female births 2. Patients with TS generally have severely deficient body height and distorted body proportions when compared with healthy women 3–6. Congenital cardiovascular disease affects 30% of patients with TS and the risk of premature death by this condition is increased 20-fold in TS subjects 7.…”

Body Proportions in Children and Adolescents With Down’s Syndrome

“…The authors observed a standard deviation of -3.28 ± 1.0 for the leg-length segment 15 . Recent studies have found similar results, in which leg length growth was reduced by -2.69 to -3.69 SD on average 16 . The literature notes the deficit of insulin-like growth factor 1 (IGF-1), which is primarily responsible for the actions of the growth hormone (GH), as one of the factors that influences the reduced growth of individuals with DS.…”

The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for <b><i>SHOX</i></b> Analysis

“…The anthropometric data from the other patients were obtained by reviewing patients' files. Some of the patients with ISS, TS and SHOX defects have been previously reported [8,13]. Height was measured with a calibrated stadiometer to the nearest 0.1 cm, with the subjects barefooted.…”

“…In females with Turner syndrome (TS), the partial or complete X chromosome monosomy leads to SHOX haploinsufficiency which partially explains the short stature and some skeletal features observed in these patients such as skeletal disproportions, micrognathia, cubitus valgus, high-arched palate, short 4th metacarpals, genu valgum, scoliosis and Madelung wrist deformity [3,4]. Abnormal body disproportions were observed in a substantial percentage of females with TS [5,6,7,8]. …”