Tall stature, gonadal dysgenesis, and stigmata of Turner’s syndrome caused by a structurally altered X chromosome

2001 ◽  
Vol 138 (2) ◽  
pp. 285-287 ◽  
Author(s):  
Gerhard Binder ◽  
Thomas Eggermann ◽  
Herbert Enders ◽  
Michael B. Ranke ◽  
Andreas Dufke
1965 ◽  
Vol 48 (1) ◽  
pp. 91-113 ◽  
Author(s):  
R. Filipsson ◽  
J. Lindsten ◽  
S. Almqvist

ABSTRACT The time of eruption of the permanent teeth, the development of the cranial skeleton, and the size of the teeth and dental arches as well as the serum sulphation factor activity were studied in 45 patients with Turner's syndrome with different types of X chromosome aberrations. A tendency to an earlier eruption of the permanent teeth was found. The significance of hormonal factors and of the dysplastic skeletal structure for the eruption of the teeth are discussed. The cephalometric analysis revealed a retarded development of the cranial skeleton. Appositional and sutural growth as well as growth in the condylar cartilage and the spheno-occipital synchondrosis, were affected. The development of the facial skeleton reached a level corresponding to that of 11 year-old girls, while that of the posterior portion of the cranial base did not reach this level. The latter finding may explain the posterior rotation of the facial skeleton in relation to the cranial base. The mesio-distal width of the permanent teeth was smaller than normal, and the frequency of root resorptions of the idiopathic type was increased in the patients. The space and space differences of the dental arches were normal. The mean level of the serum sulphation factor activity was increased. It seems likely that the abnormal X chromosome constitutions form the background to the changes in the hard tissues and that these tissue changes may be of major significance for the disturbed development of the teeth and skeleton in patients with Turner's syndrome.


The Lancet ◽  
1959 ◽  
Vol 273 (7078) ◽  
pp. 886 ◽  
Author(s):  
M. Fraccaro ◽  
K. Kaijser ◽  
J. Lindsten

1973 ◽  
Vol 8 (2) ◽  
pp. 239
Author(s):  
Mazloum Z. Osman ◽  
Bertram R. Girdany

1998 ◽  
Vol 83 (5) ◽  
pp. 1472-1476 ◽  
Author(s):  
Christine Gicquel ◽  
Véronique Gaston ◽  
Sylvie Cabrol ◽  
Yves Le Bouc

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S232-S240 ◽  
Author(s):  
W.M. TELLER ◽  
J. HOMOKI ◽  
S. WUDY ◽  
J.H.M. SCHLICKENRIEDER

ABSTRACT Twenty-two patients with gonadal dysgenesis (14 45,XO; median age 13.6 years; 8 mosaics, median age 12.3 years) were studied regarding their clinical onset of adrenarche (pubarche) and breast development. The latter was considered evidence of gonadarche. 1/22 showed breast development, stage 2; 9/22 had pubarche, stage 2-4. The 24 -urinary excretion of androsterone, etiocholanolone, dehydroepiandrosterone, 16α- and 16β-dehydroepiandrosterone was studied in these patients by urinary capillary column gas chromatography profiling. The urinary steroid profiles of twenty-one healthy, normal girls (median age 10.4 years) served as controls. Dehydroepiandrosterone and its 16-hydroxylated derivatives were excreted in significantly greater amounts by the patients with Turner's syndrome as compared to normal girls. These findings support the hypothesis, that adrenarche is independent of gonadarche and proceeds even in instances of gonadal dysgenesis.


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