effects of x chromosome on size and shape of body: an anthropometric investigation in 47,xxy males

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AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 233-242 (1984) Effects of X Chromosome on Size and Shape of Body: An Anthropometric Investigation in 47,XXY Males JUHA VARRELA Department of Anatomy, Institutes of Biomedicine and Dentistr~ University of Turku, SF-20520 Turku 52, Finland KEY WORDS 47,XXY males, X chromosome, Anthropometry ABSTRACT The effects of an extra X chromosome on size and shape of body and head were studied in 47,XXY males; 25 anthropometric measure- ments were recorded from 29 adult 47,XXY males and compared with those of male relatives and control males. In stature, arm length, leg length, triceps skinfold, and subscapular skinfold 47,XXY males were larger and in biacro- mial diameter, bideltoid breadth, wrist breadth, and in most head dimensions smaller than normal males. Arm length was increased less than leg length. Increase in stature seemed to be caused solely by increased leg length, and the somewhat feminine proportions in trunk were caused by decrease in biacro- mial diameter. Correlations of the body and head dimensions between 47,XXY maies and their male relatives were found to be normal. The present findings support the earlier proposals that X chromosome carries genes which influence linear growth. It is suggested that the reduction in biacromial diameter is caused by lowered plasma testosterone level which may also have dected sitting height. The control of body and head dimensions seems to be maintained relatively normal. The X chromosome seems to have quanti- tative effects on several body dimensions and the presence of genes in an X chromosome with influence on stature and tooth size has been postulated (Shimaguchi et al., 1961; Garn and Rohmann, 1962; Ferguson-Smith, 1965; Filipson et al., 1965; Garn et al., 1965; Hecht et al., 1970; Alvesalo, 1971; Eiben et al., 1974; Simpson, 1975; Park, 1977; Alves- alo and Portin, 1980; Kari et al., 1980; Alves- alo and Tammisalo, 1981). The effects of a missing X chromosome in 45,X females were studied in detail recently Warrela et al., 1984) and it was concluded that the X chromosome seems to contain genes which control growth in general. However, the different body di- mensions of 45,X are not evenly affected and it is possible that other factors are also in- volved. To provide further information on the role of the X chromosome in the control of quantitative growth the effects of an extra X chromosome are studied in 47,XXY males. According to the Lyon hypothesis (Lyon, 1972) the second X chromosome in 47,XXY males should be inactive. It is evident, how- ever, that the X chromosomal inactivation is not complete. The possible mechanisms by which an X chromosome can exert a dosage effect are discussed by Therman et al. (1980) and Gartler and Cole (1981). Males with 47,XXY chromosome comple- ment are taller than normal males and their tallness seems mainly to be caused by in- creased leg length (Stewart et al., 1959; Tan- ner et al., 1959; Hunter, 1969; Milne et al., 1974; Schibler et al., 1974; Smals et al., 1974; Miller et al., 1980). There are less data avail- able on changes in other body dimensions. Reduced sitting height, increased arm length (or span), and reduced biacromial diameter have been reported but these findings have been less consistent than long-leggedness CRaboch, 1957; Stewart et al., 1959; Becker et al., 1966; Hunter, 1969; Milne et al., 1974; Schibler et al., 1974; Smals et al., 1974; Miller et al., 1980). Received August 31, 1983; revised January 17, 1984; accepted January 30, 1984. 0 1984 ALAN R. LISS, INC.

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Page 1: Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 233-242 (1984)

Effects of X Chromosome on Size and Shape of Body: An Anthropometric Investigation in 47,XXY Males

JUHA VARRELA Department of Anatomy, Institutes of Biomedicine and Dentistr~ University of Turku, SF-20520 Turku 52, Finland

KEY WORDS 47,XXY males, X chromosome, Anthropometry

ABSTRACT The effects of an extra X chromosome on size and shape of body and head were studied in 47,XXY males; 25 anthropometric measure- ments were recorded from 29 adult 47,XXY males and compared with those of male relatives and control males. In stature, arm length, leg length, triceps skinfold, and subscapular skinfold 47,XXY males were larger and in biacro- mial diameter, bideltoid breadth, wrist breadth, and in most head dimensions smaller than normal males. Arm length was increased less than leg length. Increase in stature seemed to be caused solely by increased leg length, and the somewhat feminine proportions in trunk were caused by decrease in biacro- mial diameter. Correlations of the body and head dimensions between 47,XXY maies and their male relatives were found to be normal.

The present findings support the earlier proposals that X chromosome carries genes which influence linear growth. It is suggested that the reduction in biacromial diameter is caused by lowered plasma testosterone level which may also have dec ted sitting height. The control of body and head dimensions seems to be maintained relatively normal.

The X chromosome seems to have quanti- tative effects on several body dimensions and the presence of genes in an X chromosome with influence on stature and tooth size has been postulated (Shimaguchi et al., 1961; Garn and Rohmann, 1962; Ferguson-Smith, 1965; Filipson et al., 1965; Garn et al., 1965; Hecht et al., 1970; Alvesalo, 1971; Eiben et al., 1974; Simpson, 1975; Park, 1977; Alves- alo and Portin, 1980; Kari et al., 1980; Alves- alo and Tammisalo, 1981). The effects of a missing X chromosome in 45,X females were studied in detail recently Warrela et al., 1984) and it was concluded that the X chromosome seems to contain genes which control growth in general. However, the different body di- mensions of 45,X are not evenly affected and it is possible that other factors are also in- volved. To provide further information on the role of the X chromosome in the control of quantitative growth the effects of an extra X chromosome are studied in 47,XXY males.

According to the Lyon hypothesis (Lyon, 1972) the second X chromosome in 47,XXY males should be inactive. It is evident, how-

ever, that the X chromosomal inactivation is not complete. The possible mechanisms by which an X chromosome can exert a dosage effect are discussed by Therman et al. (1980) and Gartler and Cole (1981).

Males with 47,XXY chromosome comple- ment are taller than normal males and their tallness seems mainly to be caused by in- creased leg length (Stewart et al., 1959; Tan- ner et al., 1959; Hunter, 1969; Milne et al., 1974; Schibler et al., 1974; Smals et al., 1974; Miller et al., 1980). There are less data avail- able on changes in other body dimensions. Reduced sitting height, increased arm length (or span), and reduced biacromial diameter have been reported but these findings have been less consistent than long-leggedness CRaboch, 1957; Stewart et al., 1959; Becker et al., 1966; Hunter, 1969; Milne et al., 1974; Schibler et al., 1974; Smals et al., 1974; Miller et al., 1980).

Received August 31, 1983; revised January 17, 1984; accepted January 30, 1984.

0 1984 ALAN R. LISS, INC.

Page 2: Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

234 J. VARRELA

In the present study, 25 anthropometric measurements of 29 adult 47,XXY males are compared with those of their first-degree male relatives and normal males. The aim is to establish more firmly the nature and quantity of the changes in height and body dimensions in 47,XXY males and to study the effects of the extra X chromosome on size and shape of body.

SUBJECTS AND METHODS

Anthropometrical measurements were re- corded in 47,XXY males in connection with a larger investigation made on Finnish pa- tients with sex chromosome abnormalities. The present paper reports the results of the measuring of 29 males with 47,XXY chro- mosome complement and compares them with those of nine of their fathers and broth- ers and 42 control males. All individuals in- cluded in the present study were adults (> 17 years of age). The control sample consists of clinically normal 46,XY males who have attended the same dental and anthropomet- rical investigations as relatives of patients. The patients and control males have similar distribution within the country. The mean age of the 47,XXY males was 34.2 years (S.D. 9.2) and that of control males 39.3 years (S.D. 12.3). The mean age of a subsample of nine 47,XXY males was 35.8 years (S.D. 12.1) and that of their first-degree male relatives 50.3 years (S.D. 14.0). No patients with diagnosed mosaicism were included in the present study.

The following anthropometric measure- ments were taken: weight, stature, sitting height, total arm length, biacromial diame- ter, bideltoid breadth, waist breadth, bi-illac diameter, bitrochanteric breadth, chest cir- cumference, upper arm circumference (re- laxed), thigh circumference, bicondylar humerus, bistyloid wrist, triceps skinfold, subscapular skinfold, head circumference, head length, head width, minimum frontal diameter, external orbital diameter, bizygo- matic diameter, bigonial diameter, and mor- phological face height. All measurements were taken according to the instructions of Tanner et al. (1969) or Martin and Saller (1957). Leg length was calculated by sub- tracting sitting height from stature. All mea- surements were made by the author.

The mean values of the 47,XXY males were compared with those of control males by the t-test. The mean values of the 47,XXY males and control males were also compared after

they were adjusted for sue by analysis of covariance. A holistic size measure as de- fined by Healy and Tanner (1981) was used as a covariate. To obtain the size measure for body all body measurements were converted into logs and the mean of the for each type of measurements was calculated (e.g., a mean value for lengths, widths, circumferences, and for breadths of elbow and wrist). To give equal weight for each group of measure- ments the size measure for body was calcu- lated as mean of these means. The size measure for head was calculated as mean of the logs of all head dimensions. The Pearson product-moment correlation coefficients of all dimensions were calculated for nine 47,XXY male-normal male relative (father or brother) pairs. All computations were made using Statistical Package for the Social Sciences (SPSS) programs (Nie et al., 1975).

Reliability The reliability of the measurements was

studied by measuring the same 12 control subjects each on two occasions. The method error statistics equation (DahIberg, 1948) was calculated for each variable and the error of measurement is expressed as percentage of the method error statistics from the mean of each variable. The values of the error of mea- surement for body and head dimensions are given in Table 1.

TABLE 1. Error of the measurement for each variable expressed as percentage of mean

Stature 0.14

Arm length 0.33 Leg length 0.32 Biacromial diameter 0.31 Bideltoid breadth 0.57 Waist breadth 0.78 Bi-iliac diameter 0.64 Bitrochanteric breadth 0.68 BicondyIar humerus 0.32 Bistyloid wrist 0.56 Upper-arm circumference 0.97 Chest circumference 0.44 Thigh circumference 0.33 Triceps skinfold 4.42 Subscapular skinfold 3.41 Head circumference 0.24 Head length 0.54 Head width 0.60 Minimum frontal diameter 1.10 External orbital diameter 0.49 Bizygomatic diameter 0.82 Bigonial diameter 0.65 Total face height 1.29

Sitting height 0.20

Page 3: Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

ANTHROPOMETRY IN 47,XXY MALES 235

The method error statistics I

RESULTS

Details of body measurements of 47,XXY males and control males are compared in Table 2 and those of head dimensions in Ta- ble 3. Table 4 gives a comparison of body dimensions and Table 5 a comparison of head dimensions between 47,XXY males and their first-degree relatives. Of the body dimen- sions of 47,XXY males height, leg length, bitrochanteric breadth, and skinfolds are sig- nificantly larger and biacromial diameter and bideltoid breadth significantly smaller than those of control males. Similar differ- ences are found when a subsample of 47,XXY males are compared to their fathers and brothers with the exception of bitrochanteric breadth, which in 47,XXY males is only slightly larger than in their male relatives. In head, all dimensions of 47,XXY males are smaller than those of control males, the dif- ference being statistically significant in cir- cumference of head, head width, bizygomatic diameter, and face height. The differences between the nine 47,XXY males and their male relatives are otherwise smaller but in head length and external orbital diameter

the values of 47,XXY males are slightly larger than those of male relatives.

The mean height of 47,XXY males in the present sample is 182.1 cm. The difference from normal males is 5.6 cm. The comparison of the subsample of 47,XXY males with their male relatives shows that the present 47,XXY males average 6.5 cm taller than their fathers and brothers.

The diagram in Figure 1 shows the differ- ences between 47,XXY males and control males as well as those between 47,XXY males and their male relatives expressed as Z scores. Most changes from normal are less than one S.D. unit, the biggest devia- tions being in leg length, biacromial diame- ter, skinfolds, head circumference, and head width. Figure 1 demonstrates clearly that the comparison with control male sample gives almost identical results with the com- parison of 47,XXY males and their male rel- atives. However, in bideltoid breadth, bitrochanteric breadth, thigh circumference, and head length the values of 47,XXY males are closer to those of their male relatives than to those of control males.

The proportionality of sitting height, leg length, and arm length in 47,XXY males was studied by plotting each of these dimensions against height in 47,XXY males and control males (Figs. 2-4). The regression slopes are drawn on the figures separately for both groups. The difference between the slopes in

TABLE 2. Mean, number of observations (N), standard deviation (S.D.), and range of anthropometric variables of 47,XXY males and normal males: measurements of body'

47,XXY males Normal males N Mean S.D. Ranee N Mean S.D. Ranee

Weight (kg) 27 81.79 Stature 27 182.06** Sitting height 27 92.62 Arm length 27 81.21" Leg length 27 89.44*** Biacromial diameter 27 38.31*** Bideltoid breadth 27 44.04*** Waist breadth 27 30.63 Bi-iliac diameter 27 30.43 Bitrochanteric breadth 27 36.94** Bicondylar humerus 27 7.29 Bistyloid wrist 27 6.00** Upper arm circumference 27 31.01 Chest circumference 27 97.17 Thigh circumference 27 56.52 Triceps skinfold 27 1.59** Subscapular skinfold 27 1.59**

'All measurements in centimeters except weight. *P < .05. **P < .01 ***P < ,001.

15.83 7.83 3.46 3.32 5.70 2.44 2.88 3.55 2.08 3.28 0.47 0.32 3.56 9.15 6.76 0.89 0.89

52.3 -127.1 164.8 -198.3 83.8 - 99.0 76.3 - 88.6 81.0 -104.4 33.4 - 45.2 38.0 - 48.6 23.2 - 38.8 26.9 - 35.2 30.3 - 45.2 6.64- 8.35 5.42- 6.70

23.5 - 39.6 81.8 -118.0 41.6 - 71.3 0.50- 3.94 0.54- 3.62

39 78.68 40 176.44 37 92.78 38 78.91 37 83.62 37 40.07 37 46.61 38 30.54 38 30.24 38 35.05 37 7.49 38 6.20 38 31.19 38 100.04 38 54.43 36 1.02 0.40 0.34- 2.20 36 1.36 0.40 0.66- 2.22

12.91 56.0 -113.3 7.76 157.9 -197.4 4.18 83.8 -100.5 4.33 70.2 - 88.2 4.90 73.0 - 96.9 1.73 35.9 - 45.3 2.49 42.5 - 52.2 2.79 24.2 - 37.0 1.70 26.3 - 34.4 2.11 31.4 - 40.1 0.45 6.60- 8.34 0.26 5.60- 6.73 2.92 25.6 - 37.9 6.54 87.1 -113.9 40.1 46.1 - 62.5

Page 4: Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

236 J. VARRELA

TABLE 3. Mean, number of observations (Nj, standard deviation (S.D.), and range of anthropometric variables in 47 .XXY males and normal males: measurements o f hmd'

Head circumference Head length Head width Minimum frontal diameter External orbital diameter Bizygomatic diameter Bigonial diameter Total face height

47,XXY males Normal males N Mean S.D. Range N Mean S.D. Range

28 56.14*' 1.87 52.4-59.5 41 57.45 1.50 53.9-61.1 29 19.24 0.80 17.9-20.8 42 19.55 0.66 17.9-20.8 29 14.84*** 0.61 13.7-16.0 42 15.54 0.45 14.6-16.5 29 10.99* 0.75 9.7-12.9 42 11.32 0.58 9.6-12.5 29 10.41 0.48 9.5-11.3 42 10.46 0.59 9.4-12.2 29 13.76** 0.61 12.7-15.0 42 14.17 0.48 13.2-15.3 29 10.64 0.75 9.2-12.0 42 10.93 0.52 9.6-11.9 29 11.77** 0.72 10.3-13.0 42 12.30 0.68 10.9-14.1

'All measurements in centimeters. *P < 0.05. **P < 0.01. ***P < 0,001.

TABLE 4. Mean, number of observations (N), and standard deviation (S.D.1 of anthropometric variables i n 47,XXY males and their male relatiues: measurements of body'

47,XXY males Male relatives N Mean S.D. N Mean S.D.

Weight (kg) 9 80.64 14.27 9 79.71 16.41 Stature 9 182.37 9.31 9 175.92 9.37 Sitting height 8 92.25 4.43 8 92.10 4.87 Arm length 9 81.59 3.05 9 80.01 4.86 Leg length 8 90.81 6.81 8 85.19 6.10 Biacromial diameter 8 38.53 2.10 8 40.26 2.45 Bideltoid breadth 8 44.30 2.60 8 45.80 3.28 Waist breadth 9 30.37 2.36 9 31.02 2.71 Bi-iliac diameter 9 30.57 1.99 9 30.66 2.14 Bitrochanteric breadth 9 35.87 2.63 9 35.57 2.74 Bicondylar humerus 8 7.37 0.53 8 7.55 0.36 Bistyloid wrist 9 6.01 0.29 9 6.20 0.25 Upper arm circumference 9 30.93 2.57 9 31.38 2.86 Chest circumference 9 96.51 5.02 9 100.83 7.77 Thigh circumference 9 54.72 4.29 9 54.61 4.46 Triceps skinfold 9 1.77 1.00 9 1.05 0.51 Subscapular skinfold 9 2.02 0.73 9 1.53 0.63

'A11 measurements in centimeters except weight.

TABLE 5. Mean, number of observations (N), and standard deuiations (S.D.) of anthropometric variables in 47 ,XXY males and their male relatiues: measurements of head'

Head circumference 9 56.49 Head length 9 19.57 Head width 9 14.72 Minimum frontal diameter 9 11.00 External orbital diameter 9 10.42 Bizygomatic diameter 9 13.77 Bigonial diameter 9 10.71 Total face height 9 11.63

'All measurements in centimeters.

2.23 9 57.76 1.92 0.99 9 19.50 0.61 0.56 9 15.61 0.40 0.78 9 11.14 0.75 0.62 9 10.34 0.84 0.33 9 14.10 0.49 0.68 9 10.82 0.64 0.72 9 12.00 0.65

Page 5: Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

ANTHROPOMETRY IN 47,XXY MALES 237

WE 1 GHT

STATURE

S I T T I N G HEIGHT

ARM LENGTH

LEG LENGTH

B I-ACROMIAL D l M E T E R

B I D E L T O I D BREADTH

WAIST BREADTH

B I - I L I A C DIAHETER

BITROCHANTERIC BREADTH

BICONDYLAR HUMERUS

B I S T Y L O I D WRIST

UPPER ARM CIRCUMFERENCE

CHEST CIRCUMFERENCE

THIGH CIRCUMFERENCE

TRICEPS SKINFOLD

SUBSCAPULAR SKINFOLD

HEAD CIRCUMFERENCE

HEAD LENGTH

HEAD WIDTH

H l N l M U M FRONTAL DIAMETER

EXTERNAL ORBITAL DIAMETER

BIZYGOMATIC D lAnETER

Bl CON1 AL D I M E T E R

TOTAL FACE H E I G H T

- 2 0 0 .b

L

4= ‘1

Fig. 1. Z-score diagram of 47,XXY males based on the means of control males (a) and of male relatives (b).

sitting height and leg length are statistically significant, indicating that lengths of trunk and legs in 47,XXY males are out of propor- tion compared to normal males. In arm length the difference is not statistically sig- nificant. Figures 2-4 show that there is a tendency of taller 47,XXY males to have shorter trunk and arms and longer legs than normal males within smaller height.

The shape of 47,XXY males and shape dif- ferences compared to control males were fur- ther studied after removing the variation due

to size by analysis of covariance. The results of this analysis are summarized in Table 6. When allowing for size the body dimensions of 47,XXY males are relatively larger in weight, stature, arm length, leg length, bi- trochanteric breadth, thigh circumference, and skinfolds and smaller in biacromial di- ameter, bideltoid diameter, and wrist breadth. In head dimensions head width shows a larger and external orbital diameter a smaller value in 47,XXY males when al- lowed for size.

Page 6: Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

238 J. VARRELA

c-

cn t

100

h

E, w 90 I t- (3 2

Y (3 W -.I

80

160 170 180 190 200 HEIGHT ( c m )

Fig. 2. Sitting height vs. height in 47,XXY males and control males.

0 - - - 47,XXY males c- control males t

I-

0

0 ,'

2 0 ,

b

0 .'

0 om,,

;/ b

160 170 180 190 200

HEIGHT ( cm)

Fig. 3. Leg length vs. height in 47,XXY males and control males.

Table 7 shows the Pearson correlation coef- ficients for all measurements in nine 47,XXY male-first-degree male relative (father or brother) pairs. High correlations (2 .75) are found in stature, sitting height, arm length, biacromial diameter, and head circumfer- ence. The correlation in leg length is notably lower than in other length measurements. The mean of all observed correlations is 51, that of body measurements being 5 0 and that of head dimensions .53.

DISCUSSION

The present results confirm that the tall- ness of 47,XXY males is caused by increased leg length. The mean height of the Finnish 47,XXY males is within the range found in the earlier 47,XXY samples (Stewart et al., 1959; Becker et al., 1966; Hunter, 1969; Becker, 1972; Milne et al., 1974; Schibler et al., 1974; Smals et al., 1974). The difference from male relatives, if corrected for the re-

Page 7: Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

ANTHROPOMETRY IN 47,XXY MALES 239

0 - - - 47,XXY moles ( N 2 7 ) - - control males ( N 38)

160 170 180 190 200

HEIGHT (cm)

Fig. 4. Arm length vs. height in 47,XXY males and control males.

TABLE 6. A summary table of the results of analysis of covariance: comparison of measurements in control males and 47,XXY males controlling the effect of size

Source of variation Effect of size Effect of karyotype

Signific. Beta of regress. Coefficient S.E. Signific.

Weight Stature Sitting height Arm length Leg length Biacromial diameter Bideltoid breadth Waist breadth Bi-iliac diameter Bitrochanteric breadth Bicondylar humerus Bistyloid wrist Upper arm circumference Chest circumference Thigh circumference Triceps skinfold Subscapular skinfold Head circumference Head length Head width Minimum frontal diameter External orbital diameter Bizygomatic diameter Bigonial diameter Total face height

0.94 P < ,001 0.55 P < ,001 0.45 P < ,001 0.58 P < .001 0.49 P < ,001 0.59 P < ,001 0.65 P < ,001 0.87 P < ,001 0.84 P < .001 0.88 P < .001 0.78 P < .001 0.57 P < .001 0.82 P < .001 0.81 P < ,001 0.82 P < ,001 0.66 P < .001 0.73 P < .001 0.80 P < ,001 0.60 P < .001 0.61 P < ,001 0.77 P < .001 0.86 P < ,001 0.81 P < ,001 0.80 P < .001 0.58 P < .001

-1.89 -2.90

-1.14 -3.13

0.04

0.85 1.23

-0.10 -0.12 -0.95

0.09 0.08 0.02 1.28

-1.11 -8.61 -7.65

0.21 -0.04

0.41 -0.07

0.32 0.02

-0.13 0.19

k0.61 50.83 k0.45 If-0.41 k0.61 - +0.21 k0.26 kO.19 k0.13 k0.16

k0.03 k0.24 k0.58

- +0.04

k0.40 k2.25 +1.89 k0.26 +0.16

- +0.12 kO.09 kO.09 kO.11 - +0.15

Io.10

P < .01 P < ,001

n.s. P < .01 P < ,001 P < ,001 P < ,001

n.s. n.s.

P < ,001 P < .05 P < .01

n.s. P < .05 P < .01 P < ,001 P < .001

n.s. n.s.

P < .001 n s .

P < ,001 n.s. n s . n.s.

cent secular growth in Finland (Dahlstrom, 1981; Solomon et al., 1983), is about 5 cm, which can be considered to give the best es- timate of the quantity of the increase.

Sitting height is practically identical in 47,XXY males and in both control groups,

indicating that the length of trunk has re- mained normal. Arm length is increased but not as much as leg length. The regression analysis shows that in proportion to height arms tend to lag behind in taller 47,XXY males. There is large decrease in shoulder

Page 8: Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

240 J. VARRELA

TABLE 7. Correlation coefficients of digerent measurements between 47,XXY males and their first-

degree male relatives (nine pairs)

Measurement Correlation coefficient

Weiaht 0.52 Stsit& Sitting height Arm length Leg length Biacromial diameter Bideltoid breadth Waist breadth Bi-iliac diameter Bitrochanteric breadth Bicondylar humerus Bistyloid wrist Upper arm circumference Chest circumference Thigh circumference Triceps skinfold Subscapular skinfold Head circumference Head length Head width Minimum frontal diameter External orbital diameter Bizygomatic diameter Bigonial diameter Total face height

*P < .05. **P < .01. ***P < .001.

0.79** 0.95*** 0.80 * 'F 0.44 0.96***

-0.47 0.33 0.27 0.66* 0.49 0.51 0.45 0.49 0.35 0.51 0.39 0.76 0.57 0.68* 0.24 0.42 0.21 0.64* 0.69*

width but the values of bi-illiac diameter and bitrochanteric breadth are almost normal, which makes the shape of body somewhat feminine. It is known that in males the growth in the vertebral column and in the width of the shoulders a t puberty is primar- ily controlled by androgens while the growth of legs is largely growth hormone dependent (Tanner et al., 1976). The lowered plasma testosterone level in 47,XXY males may therefore be responsible for the decrease in biacromial diameter and it may also have affected sitting height.

Smals et al. (1974) suggested, after finding a negative correlation between plasma tes- tosterone level and length of legs and arm span in 47,XXY males, that the low testoster- one level could cause the increase in length of legs and arms by delaying the epiphyseal closure. However, 47,XXY boys are taller and have longer legs than normal boys already in childhood (Tanner et al., 1959; Schibler et al., 1974; Ratcliffe, 1981; Ratcliffe et al., 1982; Stewart et al., 1982) whereas in anorchial boys stature and leg length are normal be- fore puberty (Schibler et al., 1974; AynsIey- Green et al., 1976). Furthermore, the present

results show that arm length in 47,XXY males is less affected than leg length, espe- cially in taller individuals. These findings do not exclude the possibility that the hormonal deficiency in 47,XXY males has an addi- tional effect on growth of legs and arms but merely indicate that it is of minor impor- tance.

The bone widths a t elbow and wrist are decreased which is in accordance with the finding by Lauder and Milne (1975) that males with Klinefelter syndrome have smaller bone mass than normal males.

The head dimensions of 47,XXY males are, in general, smaller than those of normal males. Smaller-than-normal head circumfer- ence from birth up to age of 5 years has been reported earlier (Ratcliffe et al., 1979, 1982) and a similar difference was also found in the present sample. Most of the differences between present 47,XXY males and control males disappeared when the smaller size of 47,XXY males was allowed for. However, head width remained smaller and external orbital diameter larger in 47,XXY males. As a contrast, it is interesting to note that the teeth of 47,XXY males have been found to be larger than those of normal males (Alvesalo and Portin, 1980).

The correlation coefficients between the present 47,XXY males and their male rela- tives are roughly on the same level as those in normal individuals reported by Susanne (1975, 1977). This suggests that the normal control in most body and head dimensions of 47,XXY males is maintained in spite of the extra genetic material. The correlation in height between patients with Klinefelter syndrome and their fathers reported by Brook et al. (1977) was 53 . The correspond- ing figure in the present sample is somewhat higher (.79) but it is based on a rather small number of pairs.

The effects of the missing X chromosome in 45,X females was found to be largest in linear growth while the changes in other di- mensions showed a considerable variability Warrela et al., 1984). A similar variability is also found in the present results and, evi- dently, the extra X chromosome has no sim- ple additive effect on the body and head dimensions in 47,XXY males. In fact, the only measurements to show increased values are arm length, leg length, and skinfolds, the others being normal or smaller than normal. The presence of genes in the X chromosome affecting linear growth and stature has been

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ANTHROPOMETRY IN 47,XXY MALES 241

proposed (Ferguson-Smith, 1965; Simpson, 19751, and the present results give support for this. Trunk length of 47,XXY males seems to be unaffected but it is tempting to assume that in sitting height the extra X chromo- somal genes and the low testosterone level may influence to the opposite directions. The results of the Edinburgh Study indicate that in prepubertal 47,XXY boys sitting height is indeed increased (Ratcliffe et al., 1982). How- ever, to clarify this point studies on the pub- ertal growth of 47,XXY males are necessary.

Furthermore, an extra X chromosome has been found to slow down the rate of cell mul- tiplication in 47,XXY cells (Barlow, 1973) which, if true in 47,XXY cells also, may be an additional factor to modify the growth of 47,XXY males.

ACKNOWLEDGMENTS

I am grateful to Professor J.M. Tanner for his advice in the analysis of the data and for his criticism in the preparation of the manu- script. I am indebted to Professor L. Alvesalo for his constructive criticism. I also wish to thank Professors A. de la Chapelle and N. Hallman and Drs. R. Anttila, T. Arajarvi, P. Aula, M. Hormia, H. Hortling, J. Kangas, 0. Kauste, T. Miettinen, P. Niinivirta, E. Nik- kila, J. Pohjonen, T. Pyorala, J. Railo, J. Suominen, M.-L. Virkkunen, and M. Virk- kunen for cooperation. The technical assist- ance of Mrs. A. Bergstrom is gratefully acknowledged. Financial support for the study was granted by the Academy of Fin- land, the British Council, the Finnish Dental Society, and the Ministry of Education.

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