Oro-maxillofacial development in patients with GH deficiency and in normal short children

Detailed oro-maxillofacial studies using dental cast, pantomogram and cephalogram were performed in 43 patients with GH deficiency aged 7-17 years and compared statistically to the results from 62 short children with normal GH secretion. The dental age was retarded as compared to the chronological age in patients with GH deficiency by a mean of 2.0 +/- 1.3 years. This value did not differ statistically from that observed in normal short children (1.7 +/- 0.8 years). However the bone age was significantly retarded in patients with GH deficiency (3.2 +/- 1.7 yrs vs 1.5 +/- 1.1 yrs, p less than 0.001). There was no difference between tooth size or cephalogram analysis results in the children in the two groups. The coronal arch length, basal arch width and basal arch length were shorter in patients with GH deficiency. These data indicate underdevelopment of the maxilla in patients with GH deficiency.     

Cross-sectional growth study in patients with Turner's syndrome

The body height, weight and growth velocity were investigated in 416 patients with Turner's syndrome whose age ranged from 3 to 17 years. They were all prepubertal at the time of the present study. The chromosomal analysis revealed 45, X monosomy in 148 cases, mosaicism in 208 cases, and nonmosaic structural abnormalities of X chromosome in 60 cases. There were no significant differences in height, growth velocity and weight between the patients with the 45, X karyotype and those with other chromosomal variants at any age. Combined mean heights at 3, 10 and 17 years of age were 86.0 +/- 3.5 (m +/- SD), 116.7 +/- 5.8 and 136.8 +/- 4.8 cm, respectively. These values were below -2.0 SD of normal Japanese girls. The growth velocity was 6.0 +/- 0.5 cm/year at 4 years of age, but decreased gradually and was 1.6 +/- 0.7 cm/year at 17 years of age. The degree of overweight was within +/- 10% of ideal body weight for height between the ages of 3 and 8, 10-20% between the ages of 9 and 10, and 20-30% above the age of 11 years.     

Cytogenetic findings in Serbian patients with Turner's syndrome stigmata

Cytogenetic findings are reported for 31 female patients with Turner's syndrome. Chromosome studies were made from lymphocyte cultures. Non-mosaicism 45,X was demonstrated in 15 of these patients, whereas only three were apparently mosaic. Eight patients showed non-mosaic and four patients showed mosaic structural aberrations of the X-chromosome. One non-mosaic case displayed a karyotype containing a small marker chromosome. Conventional cytogenetics was supplemented by fluorescence in situ hybridization (FISH) with an X-specific probe to identify the chromosomal origin of the ring and a 1q12-specific DNA probe to identify de novo balanced translocation (1;9) in one patient. To our knowledge, this is the first finding of karyotype 45,X,t(1;9)(cen;cen)/46,X,r(X),t(1;9)(cen;cen) in Turner's syndrome. The same X-specific probe was also used to identify a derivative chromosome in one patient.     

Growth hormone therapy for patients with Turner's syndrome

The linear growth of 8 patients with Turner's syndrome during human growth hormone (GH) administration was documented. Mean growth velocity was significantly greater during GH treatment (4.9 +/- 0.8 cm/year) than before treatment (3.3 +/- 0.8 cm/year, p less than 0.001). Growth velocity was related to dosage but not correlated with chronologic age, skeletal age or weight.     

Birth weight and motor development of infants with Turner's syndrome

There were analysed 61 cases of Turner's syndrome, in this group--48 cases with 45,X karyotype. Author confirmed, that mean birth weight of these children was lower (2920 g), than in healthy girls (3400 g), especially in cases with 45,X karyotype (2894 g). The 1st birth order in 45,X cases decreased birth weight of these children (mean 2693 g). The most retardation of motor development--3 months--in locomotion was observed. Between two genotype groups 45,X (mean 2894 g) and 45,X/46,XX (mean 3015 g) the difference was statistically significant.     

Urinary hydroxylysine and hydroxylysyl glycosides excretion in patients with Turner's syndrome

Urinary excretion of 5-hydroxylysine (Hyl) and its two glycosides, a monoglycoside (Gal-Hyl) and a diglycoside (Glc-Gal-Hyl), and the ratio of the diglycoside to monoglycoside have been studied in 30 patients with Turner's syndrome and in 38 healthy controls. In patients, the urinary excretion of Hyl and its diglycoside was similar to that obtained in the controls, while the excretion of the monoglycoside was significantly lower before the age of 17 years. As a consequence, between 6 and 17 years of age the Glc-Gal-Hyl/Gal-Hyl ratio is significantly higher in patients with Turner's syndrome than in normal subjects. The results of our study seem to indicate a disturbance in the turnover of collagen in 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.     

Occlusal molar surfaces in females with Turner's syndrome

The aim of this study was to identify the molar occlusal features in 73 subjects with the Turner's syndrome (TS) and compared to a control group (CG) of 322 healthy females. The occlusal features were scored on dental plaster casts using the Scoring Procedures for Key Morphological Traits of the Permanent Dentition: The Arizona State University Dental Anthropology System (ASU). The results were analyzed through frequency, percentage and chi 2-test. TS subjects have more frequent reduction of cusp number, distolingual cusp on the upper molars and distal cusp on the lower molar, with the consequent reduction of the occlusal surface. Reduced size of occlusal surface and number cusps on upper molars resulted in the transformation of rhomboid occlusal shape into triangular, with the consequent loss of H-shaped groove system (in the upper right first molars H-shaped groove system was significantly less frequently found in TS (p < 0.05); in the upper left second molars H-shaped groove system was significantly less frequently found in TS (p < 0.01). The X-chromosome aneuploidy can cause a decrease in developmental homeostasis, which results in the alteration of apposition of the enamel and in consequently substantial changes of the molar occlusal morphological features.     

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.     

Ovarian differentiation in Turner's syndrome

The authors have studied the gonadal histogenesis and the sexual chromosome influence on the gonads of 17 patients with the following complements : 45,X/46,XXqi (1 case); 45,X (4 cases); 45,X/46,XXP--(1 cases); 45,Xq-- (1 case); 45,X/46,XX (8 cases); 45,X/46,XX/46,XXqi (1case); and 45,X/46,XXqi/47,XXqiXqi (1 case). The presence of sexual differentiation structures was investigated : coelomic epithelium, stromal characteristics, follicles sexual cords, medullary tubules, rete ovarii, hilar cells, mesonephric remnants and coelomic epithelium inclusions. All gonads were constituted by rudimentary ovarian stroma with different states of hyalinization. Primordial follicles were noted in two patients with respectively 45,X/46,XX and 45,X/46,XXqi/47,XXqiXqi karyotypes, and a cystic follicle was present in one patient 45,X/46,XXp--. Sexual cords were seen in 6 patients and medullary tubules in 9. Different amounts of hilar cells were found as well. The authors conclude that in Turner's syndrome there exists an ovarian dysgenesis which is probably caused by early involution before reaching the maturation, conditioned by the genetic incapacity of the oogonia to complete the meiotic prophase.