Cortical bone measurements in Turner's syndrome.

Cortical bone width measurements taken at midshaft on the second metacarpal were obtained from 156 hand X-rays of 80 karyotypically documented individuals with Turner's syndrome age 1 to 25 years. Total shaft width, medullary width, cortical width and percent cortical area were grouped by bone age and compared with normal female standards. Total width was significantly and increasingly below normal; medullary width was not consistently different from normal; cortical width was significantly lower from normal from age 14 onward, although it did rise at age 17 (adult bone age); percent cortical area was significantly below normal at ages 14 and 15, but was normal by adulthood. Values for percent cortical area did not indicate severe or widespread osteoporosis. Within the Turners sample cortical bone measurement were not significantly decreased in the presence of the XO sex chromosome constitution compared with other sex chromosome variants. Nor were the measurements decreased in the presence of positive metacarpal sign or a combination of typical Turner stigmata (web neck, low posterior hairline, shield chest). There was evidence that cortical width and percent cortical area increased significantly following estrogen treatment or spontaneous menarche.     

Growth and shaping of metacarpal and carpal cartilage anlagen: application of morphometry to the development of short and long bone. A study of human hand anlagen in the fetal period

A histological and morphometric analysis of human metacarpal and carpal anlagen between the 16th and 22nd embryonic weeks was carried out with the aim of studying the establishment of the respective anlage architecture. No differences in the pattern of growth were documented between the peripheral and central zones of the metacarpal epiphyses and those of the carpals. The regulation of longitudinal growth in long bone anlagen occurred in the transition zone between the epiphysis and the diaphysis (homologous to the metaphyseal growth plate cartilage in more advanced developmental stage of the bone). Comparative zonal analysis was conducted to assess the chondrocyte density, the mean chondrocyte lacunar area, the paired chondrocyte polarity in the orthogonal longitudinal and transverse planes, and the lacunar shape transformation in the metacarpal. In transition from epiphysis to diaphysis chondrocyte density decreased and mean lacunar area increased. No significant differences in the chondrocyte maturation cycle were observed between proximal/distal metacarpal epiphyses and the carpal anlagen. The number of paired chondrocyte oriented along the growth vector was significantly higher in both proximal/distal transition zones between epiphysis and diaphysis. Human metacarpals shared with experimental models (like mice and nonmammal tetrapods) an early common chondrocyte maturation cycle but with a different timing due to the slower embryonic and fetal developmental rate of human anlagen.     

Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome

BACKGROUND/AIMS: Leri-Weill dyschondrosteosis (LWD), a mesomelic short stature syndrome with Madelung deformity, was recently reported to be caused by SHOX (short stature homeobox-containing gene) haploinsufficiency. The loss of SHOX on Xp22.32, also called PHOG (pseudoautosomal homeobox-containing osteogenic gene), through structural aberrations of the X chromosome was also implicated in the short stature phenotype and some additional stigmata of Turner syndrome. The aim of this study was to systematically examine left-hand radiographs from Turner girls for the presence of signs of LWD. METHODS: We retrospectively studied 168 left-hand radiographs from 54 patients with Turner syndrome (bone age >10.5 years) who were treated with rhGH and seen during the last 10 years in our clinic. For comparison, we analyzed 7 radiographs from 5 patients with LWD and 52 radiographs from 20 patients with GH deficiency. The shape of the distal radial epiphysis (triangularisation index = TI) and the carpal angle were quantitatively measured. In addition, we screened for the presence of a premature cleft fusion or an ulnar deviation of the articular surface of the distal radial epiphysis and for fourth metacarpal shortening. One of 54 Turner girls (2%) was affected with LWD and presented with Madelung deformity. RESULTS: No milder forms of Madelung deformity were detected. However, there was a significant trend to a triangular shape of the distal radial epiphysis in Turner syndrome: the median TI was 2.7 in normal controls (range 1.8-3.7), 3.1 in Turner girls (range 2.0-6.3) (p < 0.001 against controls), and 6.0 in patients with LWD (range 3.5-11.0) (p < 0.001 against controls). CONCLUSIONS: The triangularisation index did not correlate with the carpal angle (median 122.5 Copyright 2001 S. Karger AG, Basel     

Twenty-four hour plasma GH, FSH and LH profiles in patients with Turner's syndrome

We studied the plasma GH profiles in 6 patients with Turner's syndrome and 6 normal girls of short stature by sampling every 20 min for 24 hours. We observed episodic secretion of GH in these subjects. The mean plasma 24 h GH level in patients with Turner's syndrome was 3.6 +/- 1.4 (SD) ng/ml which was significantly lower than that of normal short girls (7.1 +/- 2.2 ng/ml, p less than 0.01). The GH secretion during both nighttime and daytime was decreased in the patients with Turner's syndrome, however the number of pulses did not differ significantly. There were no correlations between the mean plasma 24 h GH level on one hand and peak GH level obtained after GH provocative test and plasma somatomedin C on the other. Plasma FSH and LH levels were also measured in 4 patients with Turner's syndrome. Both levels were elevated and there observed no clear pulsatile secretion of FSH, but, some pulsatile secretion of LH was observed in two patients. These data indicate that patients with Turner's syndrome have decreased endogenous GH secretion, even though they show normal GH responses to GH provocative tests.     

Study of arterial patterns of the hand in primates. Deep palmar arterial arches and their correlating arteries in Macaca fuscata

Study of the arterial patterns of the hand in Macaca fuscata, especially those of the deep palmar arterial arches and their correlating arteries, by three-dimensional arteriographic analysis revealed the following: (1) The deep palmar arterial arches are formed by the perforating branches of the 2nd dorsal metacarpal artery, and they are usually composed of two proximal arches (catella volaris proximalis and arcus volaris profundus) and one distal arch (catella volaris distalis). (2) In the 3rd and 4th metacarpal interosseous spaces, the intermetacarpal arteries arise from the catella volaris proximalis, and the arcus volaris profundus has palmar metacarpal arteries which descend along the palmar side of each metacarpal bone. (3) There is a definite regularity in the formation of the intermetacarpal arteries between the catella volaris proximalis and the catella volaris distalis and of the palmar metacarpal arteries between the arcus volaris profundus and the catella volaris distalis.     

A case report of Turner's syndrome with ring X chromosome.

A case of Turner's syndrome with short stature and 45, XO/46, XXr mosaicism in chromosome study was presented. With special emphasis on endocrinological study, the size of the breasts was normal in contrast to the poor development of the breasts in most of types of Turner's syndrome. She showed normal thyroid function, slightly low level of urinary 17-OHCS, decreased 17-KS, poor response in metopirone test and poor response of HGH to insulin.     

Turner's syndrome in the male with chromosomal mosaicism

A chromosomal mosaic XO/XY (+estra chromosome) with unequal distribution of the cells lines in blood cells and in fibroblasts is described in a boy with typical traits of Turner's syndrome.     

H-Y antigen in Turner's syndrome patients with different sex chromosome constitutions

Summary H-Y antigen was determined in seven XO-, nine XO/XX patients, in one patient with i(Xq), and in one patient with a mosaic XO/XYqh-. It turned out that all patients are H-Y antigen positive, confirming the results of earlier investigations of H-Y antigen in patients with Turner's syndrome. The results in XO/XX mosaics clearly demonstrate that the XO-cell is H-Y antigen positive and support the view of a regulatory gene for H-Y antigen gene expression which is located on the X chromosome.     

Hand dominance and bilateral asymmetry in the structure of the second metacarpal

Bilateral asymmetry in the structure of the second metacarpal was examined in relation to functional hand dominance in a large, clinically nonselected, healthy population sample from the Baltimore Longitudinal Study of Aging. Bilateral bone measurements were made from anteroposterior hand radiographs of a total of 992 individuals, 609 males and 383 females, with an age range of 19–94 years. Hand dominance was determined on the basis of personal impression. Total width and medullary width at the midshaft of the second metacarpal were measured to 0.05 mm using a Helios caliper. These two measurements were used to derive cortical thickness, cortical bone area, periosteal (total) area, medullary area, percent cortical area, and the second moment of area in the mediolateral plane. In both right and left-handed individuals, statistically significant side differences were found in the calculated bone areas and the second moment of area, with the dominant hand being larger. Cortical thickness did not show significant side-related differences for either handedness. These results show that functional handedness leads to periosteal and endosteal expansion of the second metacarpal cortex on the dominant side, increasing bone strength without increasing cortical thickness. This is the first time this pattern of asymmetry has been reported in left-handers as well as right-handers. Our results argue for the primacy of environmental (mechanical) effects in determining bilateral asymmetry of limb bone structural properties. © 1994 Wiley-Liss, Inc.     

Does trabecular bone structure within the metacarpal heads of primates vary with hand posture?

Reconstructing function from hominin fossils is complicated by disagreements over how to interpret primitively inherited, ape-like morphology. This has led to considerable research on aspects of skeletal morphology that may be sensitive to activity levels during life. We quantify trabecular bone morphology in three volumes of interest (dorsal, central, and palmar) in the third metacarpal heads of extant primates that differ in hand function: Pan troglodytes, Pongo pygmaeus, Papio anubis, and Homo sapiens. Results show that bone volume within third metacarpal heads generally matches expectations based on differences in function, providing quantitative support to previous studies. Pongo shows significantly low bone volume in the dorsal region of the metacarpal head. Humans show a similar pattern, as manipulative tasks mostly involve flexed and neutral metacarpo-phalangeal joint postures. In contrast, Pan and Papio have relatively high bone volume in dorsal and palmar regions, which are loaded during knuckle-walking/digitigrady and climbing, respectively. Regional variation in degree of anisotropy did not match predictions. Although trabecular morphology may improve behavioral inferences from fossils, more sophisticated quantitative strategies are needed to explore trabecular spatial distributions and their relationships to hand function.     

The estimation of adult stature from metacarpal bone length

Stature was measured (in cm) in 166 (120 male; 46 female) predominantly white adults (age range: 17–87 years). A radiograph of one hand of each subject was taken (for routine diagnostic purposes) and the inter-articular length of all five metacarpal bones was measured with a sliding caliper. These metacarpal lengths were then adjusted to compensate for enlargement during radiography. A significant correlation coefficient between stature and metacarpal length was observed in both sexes. Regression equations were computed from the length of each metacarpal, by which living stature may be fairly accurately estimated in the absence of any complete limb bones. The difference between our estimates and those obtained by more orthodox methods is usually less than 3%.     

Osteocutaneous posterior interosseous flap for reconstruction of the metacarpal bone and soft-tissue defects in the hand

A vascularized bone segment of the ulna together with a posterior interosseous fasciocutaneous flap is harvested, including a cuff of the extensor pollicis longus muscle. The authors treated five male patients with metacarpal bone and soft-tissue defects of the hand using a distally based island osteocutaneous posterior interosseous flap. Their ages at the time of surgery ranged from 15 to 37 years (mean, 24 years). The bone defects were in the first metacarpal in three cases, the fourth metacarpal in one, and the fifth metacarpal in one. The length of the donated ulna ranged from 3 to 7 cm (mean, 5 cm). The follow-up period ranged from 5 to 92 months (mean, 39 months). All flaps survived completely. The posterior interosseous flap provides thin skin of good texture, together with vascularized bone, for a one-stage reconstruction of the metacarpal bone and soft-tissue defects in the hand.     

Evolutionary morphology of the Tenrecoidea (Mammalia) carpal complex

The mammalian carpus can be difficult to interpret both phylogenetically and functionally. It is evolutionarily constrained in terms of functional morphology, yet there is considerable variation among many eutherian and metatherian lower and higher level taxa. The ecologically diverse Tenrecoidea (Mammalia) is a useful model for morphological interpretation of the interplay between function and phylogenetic constraint. Elements from the wrist and hand of 13 tenrecoid species, and one species each from Macroscelididae, Solenodontidae, and Erinaceidae, were compared to test form–function hypotheses of specific carpal, metacarpal, and phalangeal characters. Qualitative comparisons illustrate that several aspects of the tenrecoid carpus can be correlated with positional behaviour. Convergences within Tenrecoidea, and between tenrecoids and nontenrecoids with similar locomotor regimes, confirm a small number of carpal characters and a larger number of distal forearm, metacarpal, and phalangeal characters that reliably correspond with functional expectations. In addition, several features of the carpus appear to be phylogenetically constrained and indicate specific affinities within Tenrecoidea. Finally, there are a significant number of carpal features that vary among the studied taxa and remain ambiguous in terms of phylogenetic and/or functional significance.  © 2008 The Linnean Society of London, Biological Journal of the Linnean Society , 2008, 93 , 267–288.     

Volumetric bone mineral density in young women with Turner's syndrome treated with estrogens or estrogens plus growth hormone

To explore the effects of estrogen replacement therapy (ERT) and recombinant growth hormone (GH) treatment on bone mineral density (BMD) in Turner's syndrome, we assessed volumetric BMD (vBMD), which is less dependent on body and bone sizes, in these patients at final height. The areal BMD (aBMD) was measured in 26 young women with Turner's syndrome (age range 17.5-25.0 years) by dual-energy X-ray absorptiometry, and vBMD was calculated. Patients were subdivided as group 1 (n = 12; ERT alone) and group 2 (n = 14; GH + ERT). Years of estrogen exposure were not different between the groups (group 1: 6. 4 +/- 1.5 years; group 2: 5.3 +/- 1.7 years); in group 2, GH therapy was 5.3 +/- 1.4 years. Final heights were significantly higher in group 2 than in group 1 (148.1 +/- 3.0 vs. 142.0 +/- 2.8 cm; p < 0. 0001) as well as aBMD (1.073 +/- 0.118 vs. 0.968 +/- 0.122 g/cm(2); p < 0.04). vBMD was higher in group 2 but not significantly different from group 1 (0.374 +/- 0.030 vs. 0.358 +/- 0.027 g/cm(3); p = 0.169). aBMD was reduced with respect to the normative values in both groups (group 1: -1.97 +/- 1.04 SDS, p < 0.0001 vs. 0; group 2: -0.93 +/- 1.01 SDS, p < 0.005 vs. 0), whereas vBMD was not (group 1: -0.07 +/- 0.79 SDS; group 2: 0.42 +/- 0.82 SDS). Our data suggest that: in Turner's syndrome GH administration improves final height and aBMD, but it does not significantly increase vBMD; aBMD reduction in Turner's syndrome is likely due to the impaired growth and reduced bone size; Turner's patients on ERT from adolescence show vBMD values in the normal range in young adulthood.     

The functional morphology of the cercopithecoid wrist and inferior radioulnar joints, and their bearing on some problems in the evolution of the Hominoidea.

The cercopithecoid wrist joint differs from the wrist joints of hominoids in several ways. The distal ulna, the distal radius, the pisiform, the triquetrum, the hamate, and the base of the fifth metacarpal are on the one hand remarkably alike among cercopithecoid genera, and on the other remarkably distinct from homologous bones in the Hominoidea. Functionally, the triquetrum and the pisiform, in conjuction with the ulnar styloid process, check the proximal carpal row during ulnar deviation, and are possibly important in stabilizing the wrist during dorsiflexion as well. The head of the ulna almost certainly betokens a range of radioulnar supination in cercopithecoids that is substantially less than is to be found in any of the hominoid genera. The articulation between the hamate bone and the base of the fifth metacarpal allows for considerable dorsiflexion in the Cercopithecoidea; this potential was not evidenct in any of the hominoids examined. Behaviorally, the cercopithecoid wrist can most profitably be viewed as an adaptation for a quadrupedal life style involving dorsiflexion of the wrist and palmigrade/digitigrade substrate contact. The hominoid wrist joint is not adapted for such a behavioral potential.     

The third metacarpal styloid process in humans: origin and functions

The development, mechanics, and pathology of the third carpometacarpal joint have been investigated in order to explain the unique presence in humans of a styloid process on the third metacarpal. Structure and functions of the joint are compared in a large series of Old World anthropoid hand skeletons, cadavers, and X-rays, and shown to differ in the three groups. Developmental anomalies reveal the source of the human styloid in a group of cells which fuse with the capitate in other Old World Anthropoidea. The absence of the process in Australopithecus afarensis and its presence in Neandertals suggest that an explanation for the evolution of the process may be sought in stresses on the hand in stone tool-use. Film analysis of stone tool-use shows that hammering and digging with hand-held stones direct forces on the palmar aspect of the metacarpal head. From a biomechanical analysis of these forces it may be seen that the styloid process prevents subluxation of the base. The effectiveness of the process in this function is reflected by the rarity of injury and arthritis in the region. Individuals lacking the process tend to undergo degeneration of bone at the joint. Since repetitive impulsive forces on joints are known to cause osteoarthritis, it is suggested that there may be a link between the increasing reliance of early hominids on manipulative behavior that stressed this region of the hand and the evolution of a structural pattern that protects the joint from these stresses.     

45,XO Turner's syndrome,Wilm's tumor and imperforate anus

Summary An eleven-year-old girl with 45,XO Turner's syndrome, Wilms' tumor and imperforate anus is presented. The family history revealed that a sib of the patient also had imperforate anus. A review of the literature showed that the occurrence of Wilm's tumor in patients with Turner's syndrome has not been recorded previously, although it is known that anomalous differentiation of the kidneys is relatively common in this condition.

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Zusammenfassung Ein elfjähriges Mädchen mit 45,XO-Turner-Syndrom, Wilms-Tumor und Atresia ani wird beschrieben. Ein Geschwister hatte ebenfalls eine Atresia ani gezeigt. Wie eine Durchsicht der Literatur ergab, was das Vorkommen des Wilms-Tumors beim Turner-Syndrom vorher neimals beschrieben worden, obwohl bekannt ist, daß Nierenfehlbildungen bei diesem Syndrom relativ häufig sind.

     

Oro-maxillofacial development in patients with Turner's syndrome

Detailed oro-maxillofacial studies using dental casts, pantomograms and cephalograms were performed in 28 patients with Turner's syndrome and compared statistically to the results from 23 normal short children. Small tooth crown size, short tooth roots and advanced dental age were characteristic of patients with Turner's syndrome. However, the incidence of peg shaped teeth, malocclusion, high arched palate and congenital anodontia were not characteristic of patients with Turner's syndrome. The coronal arch width (C.A.W.) and basal arch width (B.A.W.) were greater and the coronal arch length (C.A.L.) and basal arch length (B.A.L.) were less in patient's with Turner's syndrome. These data indicate underdevelopment of the maxilla in the forward direction forming the wide-, flat-shaped facial characteristic of patients with Turner's syndrome.