Growth and Maturation of Patients with Turner's Syndrome

Abstract

The effects of sex chromosome constitution and estrogen treatment on increase in height and on skeletal and sexual maturation were studied in 116 patients with female phenotype and at least one major feature of Turner's syndrome associated with an abnormality of an X chromosome. Seventy-one patients had a pure 45X karyotype (XO group) and the remainder comprised 33 with X chromosome mosaicism and 12 with a structurally abnormal X (non-XO group).Birth weight at all durations of gestation was similar for XO and non-XO but significantly lower than normal. Correlations of birth weight with adult height and weight were unexpectedly high, 0.96 and 0.92 respectively. Patients were significantly shorter than normal (P < 0.05) at all ages tested from 2-17 years, but increasingly more so after age 10. Mean adult height was 142.0 ± 7.60 cm (n = 28). Unlike most other reports there was no consistent pattern of significant differences in height between XO and non-XO or between Xp monosomic and Xp disomie patients.The 13 patients (2 XO, 11 non-XO) who experienced spontaneous menarche evidenced a slight premenarcheal growth spurt. In 11 of these 13 patients, the average growth rate increased from 3.00-4.83 cm/year in the year before menarche; however, this is far below the mean pubertal growth velocity of 9 ± 1.03 cm/year. This observation indicates that endocrine mechanisms associated with more normal pubertal sexual development also produce a more normal pattern of growth. The estrogen-treated group grew at a lower, fairly constant rate in the 2 years before and 1 year after treatment, and total increase in height after estrogen treatment averaged only 3.6 cm.Rate of skeletal maturation was less than normal (0.53 boneage year/chronologie year) in the 2 years before treatment, and greater than normal (1.47 bone-age year/chronologic year) in the two years after treatment, suggesting that these patients may be hypersensitive to the skeletal maturing effects of estrogen.Pretreatment breast development: absent or more delayed than pubic hair development, but the delay in both secondary sex characters was greater than the delay in skeletal maturation. At age 12, the average normal girl has moderate breast development, but at bone-age 12, only 5.4% of our patients had moderate breast development and only 10.8% had moderate pubic hair.Significantly but not unexpectedly more non-XO than XO patients experienced spontaneous menarche. Even the non-XO patients who require estrogen treatment may have a more normal level of ovarian function than do XO patients, who have significantly less pretreatment breast development and later epiphyseal fusion.

Cytogenetic findings in Serbian patients with Turner’s syndrome stigmata

“…Mosaicism X/XY was absent in our report, as well as in the study of Ranke and colleagues (1983). Also, del(Xq) was not present in our patients, while it was found in three of the five studies mentioned above (Hall et al, 1982;Park et al, 1983;Held et al, 1992). Karyotype Xi(Xq) was the most common in our group of patients (16.1%), comparable to other studies (Palmer and Reichmann, 1976;Hall et al, 1982;Ranke et al, 1983;Park et al, 1983;Held et al, 1992).…”

“…Sex chromosome constitution in our group of patients compared with five major studies. studies they were present (Palmer et al, 1976;Hall et al, 1982;Ranke et al, 1983;Park et al, 1983;Held et al, 1992). Mosaicism X/XY was absent in our report, as well as in the study of Ranke and colleagues (1983).…”

“…Also, del(Xq) was not present in our patients, while it was found in three of the five studies mentioned above (Hall et al, 1982;Park et al, 1983;Held et al, 1992). Karyotype Xi(Xq) was the most common in our group of patients (16.1%), comparable to other studies (Palmer and Reichmann, 1976;Hall et al, 1982;Ranke et al, 1983;Park et al, 1983;Held et al, 1992). Particularly interesting was the karyotype of our patient with a balanced translocation t(1;9) in all mitoses, and r(X) chromosome in mosaic form.…”

“…Table 2 summarizes the chromosome findings in lymphocytes of patients with Turner's syndrome reported in the literature, as well as our results. The data include studies by Palmer and Reichmann (1976), Hall et al (1982), Ranke et al (1983), Park et al (1983), Held et al (1992), and present the series of the patients reported, respectively. By comparing our findings with results of these studies, we conclude that, although our group of patients was the smallest, the results were roughly similar.…”

Proporções corporais em um grupo de pacientes brasileiras com Síndrome de Turner

“…Os estudos de proporções corporais em ST são escassos e freqüentemente preocupam-se apenas com a altura final (6)(7)(8)11,(13)(14)(15)(16)(17)(18)(19)(20). Poucos estudos avaliaram outras variáveis antropométricas, destacando-se entre estes os de Bösze e cols.…”