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.     

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.     

Turner's syndrome: a qualitative and quantitative analysis of EEG background activity

Summary A qualitative and quantitative analysis was performed on the EEG background activity in 62 Danish girls and women with Turner's syndrome (30 with karyotype 45,X and 32 with other karyotypes) whose ages ranged from 6 to 47 years (87% were aged 15 years or more) and age-matched controls. The pooled data and a case-control study showed characteristic features in Turner subjects, including: (1) more rapid frequency, larger amplitude and lower amount of alpha waves, (2) higher amount of theta waves, (3) larger amplitude and higher amount of delta waves and (4) larger amplitude and higher amount of beta waves than in controls. These findings in Turner subjects were more pronounced in the left hemisphere, and more typical, except for the amplitude in alpha waves, in Turner subjects with 45,X than in those with other karyotypes. The effects of advancing age on the EEG background activity observed in controls — including more rapid frequency, decreased amplitude and amount of alpha waves, increased amount of theta and delta waves, and increased amount of beta waves, particularly after 35 years of age — were found in some Turner subjects. Hemispheric differences with higher activity (i.e. more rapid frequency, larger amplitude and higher amount of alpha waves, particularly at Fp₁ and F₃, and, inversely, lower amount of theta or delta waves) at P₃, T₃, T₅ and O₂ than at the opposite side were found in many Turner subjects. However, these findings were not specific for Turner subiects, since the same hemispheric differences were also observed much more markedly in controls. These topographic distributions with hemispheric differences did not provide evidence for hypofunction in the temporo-parieto-occipital tertiary area of the right hemisphere in Turner subjects, though this had been expected on the basis of neuropsychological examinations. Our findings, including transiently appearing brain hypofunction at the parietal, temporal and occipital areas, most often in the right hemisphere, indicate a relationship between the chromosomal constitution 45,X and EEG background activity. They suggest the presence of functional brain disturbance in the thalamus and in the ascending reticular activating system, which tends to disturb the thalamo-cortical circuit. Further studies, including topographic and sequential power spectrum analysis of EEG background activity, 24-h continuous EEG recording, blood flow studies (positron computerized tomography) and neuropathological examination, may be needed.Tables I-VI are available on request     

Prenatal and postnatal expression of mRNA coding for rat prothrombin.

The levels of prothrombin mRNA in prenatal and postnatal rat tissues were analyzed in order to determine tissue distribution of prothrombin expression and to determine if increases in liver prothrombin mRNA during development correlated with previously documented developmental increases in plasma prothrombin levels. Maternal tissues were also analyzed in order to determine if prothrombin mRNA levels varied due to gestational or postpartum influences. Northern analysis demonstrated that rat liver prothrombin mRNA levels increased several-fold late in gestation and reached maximal levels by 13 days after birth. Prothrombin mRNA was also expressed in diaphragm, stomach, intestine, kidney, spleen and adrenal tissues during development. In maternal tissues during pregnancy, prothrombin mRNA was expressed in liver, diaphragm, stomach, uterus and placenta. Prothrombin mRNA levels in each of these tissues that were positive by Northern analysis were quantitated by solution hybridization analysis. Between gestational day 18 and postnatal day 13, liver prothrombin mRNA levels increased from approx. 600 to 2100 molecules per cell (a 3.5-fold increase). In maternal liver during pregnancy, between day 18 and day 22, prothrombin mRNA levels increased from approx. 1800 to 2100 molecules per cell. Immediately after delivery, maternal liver prothrombin mRNA levels decreased to approx. 50% of preparturition levels. Prothrombin mRNA levels in placental tissue ranged from approx. 100 to 250 molecules per cell. In other fetal, postnatal and maternal tissues, prothrombin mRNA expression was less than 100 molecules per cell. These results demonstrate that the level and tissue-type expression of prothrombin mRNA varies in response to prenatal and postnatal influences.     

Growth hormone reserve capacity in Turner's syndrome.

In 11 untreated and 6 oestrogen-treated Turner's syndrome patients, the changes in the serum growth hormone level were studied following the induction of hypoglycaemia with insulin. The growth hormone was measured with a radioimmune assay technique. The growth hormone peak value measured in healthy females was 54.32 +/- 17.17, in untreated Turner's syndrome was 14.90 +/- 3.71, and in oestrogen-treated Turner patients was 33.38 +/- 9.22 microU/ml (average +/- standard error). On the basis of the results, a role is attributed to the decreased growth hormone reserve in the low growth of Tuner's syndrome patients.     

Associated adrenogenital and Turner's syndrome mosaicism

We present a case of adrenogenital syndrome associated with Turner's syndrome mosaicism in which a urogenital sinus Z-plasty was performed. With such patients, a multidisciplinary approach to management is mandatory.     

Radiological anthropometry of the hand in Turner's syndrome.

Metacarpal-phalangeal (M-P) lengths, metacarpal sign, and carpal angle were studied using 142 pairs of hand X-rays from 81 individuals with Turner's syndrome age 6 to 25 years. Left M-P lengths, grouped by bone age, were compared with normal female standards and Z-score pattern profiles calculated for each bone age. Differences between Turners and normals in most M-P lengths increased with age, particularly after puberty. Calculation of inter-individual and intra-individual variability yielded good evidence for a M-P pattern profile typical of Turner's syndrome, with increasing growth deficiency from distal to proximal and lateral to medial. The incidence of positive metacarpal sign was 33.8%, with no significant difference between XO and non-XO Turners. It did not appear that M4 ceased growth prematurely, suggesting that short M4 is not the result of early epiphyseal fusion. Carpal angle, reported to be abnormally decreased in Turners, was not found to differ from normal. There was no difference between right and left sides or between XO and non-XO Turners, but carpal angle did decrease significantly with both decreasing ulnar deviation in positioning of the hand and increasing age. In the latter respect Turners differ from normals who show an increase in carpal angle with age.