Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

Varrela, Juha

doi:10.1002/ajpa.1330640305

Cited by 26 publications

(15 citation statements)

References 28 publications

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“…Recent anthropometric findings among sex chromosome aneuploidies have been published in several reports by the group headed by Varella. It was shown that a missing X-chromosome has a decreasing effect on most body dimensions including height in 45,X females (Varella et al, 1984b), whereas the effects of an extra X chromosome among 47,XXY males are more variable (Varella, 1984b). Varella (1984a) also found that most dimensions of 46,XX males were smaller than those of normal males and that 46,XX males are shorter and smaller than 47,XXY males.…”

Section: Anthropometric Studies Of Genetic Diseasementioning

confidence: 93%

An anthropometric assessment of Huntington's disease patients and families

Farrer

Meaney

1985

American J Phys Anthropol

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An anthropometric investigation was designed to evaluate patterns of physical deterioration in Huntington's disease (HD). In this study a comprehensive set of measurements was taken including height, weight, body circumferences, skinfold thickness, and craniofacial, linear, and breadth components of the body, on 44 normal, 26 affected, and 70 at-risk individuals between 14 and 88 years of age. The anthropometric data were converted to z-scores using standards to adjust for age and sex differences. These scores were then adjusted for inter-family variation. There were significant differences among normal and affected individuals for all dimensions of body mass, as well as for several craniofacial and linear components of the body. Several significant differences were also found between normals and particular age cohorts of at-risk persons. HD gene carrier status was further assessed by factor analysis of the adjusted scores.

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Section: Anthropometric Studies Of Genetic Diseasementioning

confidence: 93%

An anthropometric assessment of Huntington's disease patients and families

Farrer

Meaney

1985

American J Phys Anthropol

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“…The prevalence of the syndrome has been studied in several surveys and is estimated to be around 150 per 100,000 male births (1 in 667 males) [3]. Before puberty, subtle physical anomalies such as a slightly smaller penile length, a lower than normal testicular volume, a taller than expected stature and a low upper to lower segment ratio due to increased leg length are generally missed on routine examination [4,5,6]. The prevalence of speech delay and learning difficulties is reportedly higher than expected in the population [7].…”

Section: Introductionmentioning

confidence: 99%

Comparison of Adolescents with Klinefelter Syndrome according to the Circumstances of Diagnosis: Amniocentesis versus Clinical Signs

Girardin

Lemyre²,

Alos³

et al. 2009

Horm Res Paediatr

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Aims: We compared the phenotype of adolescents with Klinefelter syndrome diagnosed by amniocentesis or postnatally to the general population with a view to evidence-based genetic counselling. Methods: The charts of 28 patients seen between ages 12 and 18 years were reviewed. Physical and neurodevelopmental data were compared between patients diagnosed by chance (amniocentesis, group A, n = 11) or on the basis of symptoms (group B, n = 17) and the general population. Our hypothesis was that group A would have a more heterogeneous and less severe phenotype than group B. Results: All patients had spontaneous puberty. The 2 patient groups were similar in physical development. Mean testosteronemia became lower than the normal mean from age 14 years. Compared to the general population, the prevalence of gynecomastia and school delay in group A was not significantly different (gynecomastia 33 vs. 40%, p = 0.70; school delay 40 vs. 20%, p = 0.25). In contrast, gynecomastia (77%) and school delay (56%) were significantly more frequent in group B than in the general population (p = 0.01 for both). Conclusions: Although they are based on a small number of patients, our data provide the groundwork for cautious optimism in prenatal counselling for Klinefelter syndrome.

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“…Since SHOX is expressed in the distal limb region (3), and pure gonadal dysgenesis is usually associated with eunuchoid habitus with relatively long limbs (17,18), it is inferred that SHOX overdosage and gonadal estrogen deficiency have primarily exerted a synergic effect on the limb bones, leading to the marked increase in the LL and resultant change in the body proportion. This idea would explain why relatively tall stature in Klinefelter patients is almost totally ascribed to increased LL (19,20), because Klinefelter patients have three copies of SHOX and hypogonadism.…”

Section: Discussionmentioning

confidence: 99%

Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency

Ogata

Inokuchi

Ogawa³

2002

European Journal of Endocrinology

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Objective: To report on growth pattern and body proportion in the combination of short stature homeobox-containing gene (SHOX) overdosage and gonadal estrogen deficiency. Design: Auxological studies in a 20-year-old Japanese female with 45,X[28]/46,X,psu idic(X)(q28) [72], gonadal estrogen deficiency, and SHOX duplication on the idic(X) chromosome, who received sex steroid replacement therapy from 16 years 8 months of age. Methods: Growth pattern and body proportion were assessed by the age-matched standards for Japanese females. Results: She continued to grow with a mean height velocity of 5.0 cm/year between 8 and 12 years of age and 4.4 cm/year between 12 and 16 years 8 months of age, and ceased to grow shortly after the replacement therapy. The standard deviation score (SDS) for height was 20.9, 21.4, þ0.7 and þ 0.8 at 8, 12, 16 years 8 months and 20 years of age respectively. She showed a unique change in body proportion in her middle teens. At 8, 12, 16 years 8 months and 20 years of age, the SDS for sitting height (SH) was 20.8, 2 1.1, 2 0.9 and 20.6 respectively, the SDS for leg length (LL) was 21.2, 2 1.4, þ1.1 and þ1.4 respectively, and the SDS for SH/LL ratio was þ0.6, þ0.4, 2 1.6 and 2 1.7 respectively. Conclusions: The results provide further support for the notion that the combination of SHOX overdosage and gonadal estrogen deficiency permits continued growth with a roughly constant height velocity throughout the pubertal period of normal children, and suggest that the height gain in that period is primarily ascribed to the LL increase, as expected from SHOX expression in the distal limb bones.

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Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

Cited by 26 publications

References 28 publications

An anthropometric assessment of Huntington's disease patients and families

An anthropometric assessment of Huntington's disease patients and families

Comparison of Adolescents with Klinefelter Syndrome according to the Circumstances of Diagnosis: Amniocentesis versus Clinical Signs

Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency

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