Trends in age at diagnosis of Turner syndrome

The age at diagnosis of 242 girls with Turner syndrome (TS) treated in Belgium with growth hormone between 1991 and 2002 was evaluated. The median (range) age at diagnosis was 6.6 (0-18.3) years. Patients with 45,X karyotype were diagnosed earlier than patients with other karyotypes. Compared to a previous survey, performed on 100 patients 12 years earlier, more patients were diagnosed during infancy and childhood, and less during adolescence. However, in 22% of the girls the diagnosis was made after the age of 12 years; these girls showed the largest height deficit. As early diagnosis has several potential advantages we recommend that a cytogenetic analysis should be considered in all girls with unexplained short stature with height below -2 SD of the mean for age or below the parent specific lower limit of height.     

Trends in age at diagnosis of Turner syndrome.

The age at diagnosis of 242 girls with Turner syndrome (TS) treated in Belgium with growth hormone between 1991 and 2002 was evaluated. The median (range) age at diagnosis was 6.6 (0-18.3) years. Patients with 45,X karyotype were diagnosed earlier than patients with other karyotypes. Compared to a previous survey, performed on 100 patients 12 years earlier, more patients were diagnosed during infancy and childhood, and less during adolescence. However, in 22% of the girls the diagnosis was made after the age of 12 years; these girls showed the largest height deficit. As early diagnosis has several potential advantages we recommend that a cytogenetic analysis should be considered in all girls with unexplained short stature with height below -2 SD of the mean for age or below the parent specific lower limit of height.     

Turner综合征232例染色体核型、诊断年龄和身高分析

目的 研究Turner综合征(TS)的染色体核型、诊断年龄和身高的分布特点.方法 对27年随机就诊的1015例身材矮小女童,经过染色体核型分析确定TS的诊断,回顾性统计分析TS患儿的染色体核型、诊断年龄和身高,采用SPSS 11.0软件进行数据统计分析.结果 1.确诊TS患儿232例,诊断率为22.9％.2.共检测到26种异常染色体核型,以45,X和46,Xi(Xq)最为常见,分别为75例(32.4％)和38例(16.4％).其中有21种嵌合体核型,共111例(47.8％).3.TS患儿诊断年龄为(10.90 ±4.55)岁,青春期是诊断高峰.＜2岁组15例(6.4％)、2～＜7岁组35例(15.1％)、7～ ＜12岁组93例(40.1％)、12 ～＜18岁组89例(38.4％).4.TS患儿身高标准差得分(Z分值)均值为-3.60±1.20,Z分值与诊断年龄之间存在明显的负线性相关(r=-0.613,P＜0.000).5.在年龄≥13岁的74例TS患儿中64例(86.5％)出现青春期延迟,而在81例非TS病例中仅22例(27.2％),2组间差异有统计学意义(OR=16.297,P=0.000).结论 1.TS的染色体核型呈多样性.2.TS患儿的身高不足随着年龄的增加更为显著,青春期延迟的特征性表现也逐渐显现.3.国内TS诊断年龄比发达国家延迟;对于身高Z分值低于-2或在身高下限的矮小女童应及早进行染色体核型分析,有益于TS的早期诊断.     

Turner syndrome. Cytogenetic analysis of 165 patients with Turner syndrome. 1st report

Results are reported of a cytogenetic study on 165 patients with Turner syndrome, based on sex chromatin and karyotype tests. We found that the karyotype 45,X is present only in 54.54% of the cases in homogeneous form and in about 14% of the cases in mosaic form associated with a normal clone 46,XX or, rarely, also with a clone 47,XXX; in the other cases X structural anomalies and different kinds of mosaic forms are present. We also found 5 pregnancies in 2 patients: only 2 daughters were born and alive, the first was normal and the second presented the same karyotype and clinical picture of her mother.     

Oxandrolone therapy in patients with Turner syndrome.

Long-term, low-dosage androgen treatment of patients with Turner syndrome results in more rapid growth and significantly greater adult height than in control patients who receive only estrogen for pubertal development. Seventeen patients treated with oxandrolone for one year and ten treated for two years had significantly greater growth velocities during than before treatment. Mean adult height of 25 patients treated with oxandrolone, fluoxymesterone, or both was significantly taller than the height of adult patients with Turner syndrome treated with estrogen only. Excessive skeletal maturation was not generally observed.     

Age and height at diagnosis in Turner syndrome: influence of parental height

Age and height at diagnosis was studied in 100 patients with Turner syndrome: 41 with the 45,X karyotype and 59 with various other karyotypes. In 15 patients diagnosis was made at birth. In the remaining patients median age at diagnosis was 12.9 years in those with 45,X karyotype and 11.6 years in the others. Mean +/- SD height standard deviation score at diagnosis was -3.2 +/- 0.9 for the patients with 45,X karyotype and -2.8 +/- 0.9 for the others. A significantly negative correlation was found between age and height standard deviation score at diagnosis (r = - .51; P less than .005). Corrected mid parental height was significantly correlated with height standard deviation score at diagnosis (r = .49; P less than .005), but not with age at diagnosis (r = -.08). It is concluded that although Turner syndrome is a congenital disorder, the diagnosis is usually made too late, at a chronological age when a marked height deficit is present. To make an early diagnosis, a cytogenetic examination should be recommended for all girls with height more than 2 SD below the mean for age or more than 2 SD below corrected mid parental height.     

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Turner综合征(TS)又称先天性卵巢发育不全,是由于全部或部分体细胞中1条X染色体完全或部分缺失所致。1930年由Ullrich首先报告。1938年Turner对7例具有女性表型,但有原发性闭经,性发育不良,有颈蹼、肘外翻和身材矮小等体征的患者做了详细的临床描述,故该病又称为Ullrich-Turner综合征。1954年,Polani证明本病大多数患者X染色质为阴性。1959年,Ford证实患者的核型为45,X。TS是第一个被描述的性染色体异常,经过多年的病例总结与核型分析,人们发现TS的遗传学十分复杂,其诊断、治疗和遗传咨询仍存在诸多问题。1Turner综合征的临床表现TS…     

Renal malformations in patients with Turner syndrome: imaging in 141 patients

Turner syndrome occurs in 1/2,000 to 1/5,000 live female births. The presence of renal malformations was evaluated in 141 patients with Turner syndrome and abnormalities were found in 47 (33%). Prior to 1980, IVP was the radiologic method used for initial screening, and subsequently, ultrasonography has been used as the initial imaging technique. With both methods, major malformations can be detected. Ten patients had a horseshoe kidney, 11 had double collecting systems, four had complete absence of one kidney, three had crossed ectopia, and one had a pelvic kidney. Three patients had ureteropelvic junction obstruction; two of these were asymptomatic and the obstructions were detected only because of the routine imaging. Two patients had ureterovesicular junction obstruction, with one studied as part of a routine evaluation for short stature. Four of these five patients required surgery. Ultrasonography should be used as the initial renal imaging study for all patients at the time the diagnosis of Turner syndrome is made.     

Association of Turner syndrome with hypoplastic left-heart syndrome

Three cases of hypoplastic left-heart syndrome (HLH) associated with Turner syndrome (45,X) were seen during an 11-year interval. Several isolated case reports are present in the literature. This association is probably not fortuitous but, rather, may represent the most extreme form of a spectrum of left-sided heart anomalies seen in patients with Turner syndrome. The association of Turner syndrome with HLH, as well as other known genetic etiologies of HLH, underscores the need for a detailed genetic evaluation in all patients with HLH and argues for cytogenetic analysis for even nondysmorphic females with HLH.     

Screening of patients with Turner syndrome for "hidden" Y-mosaicism

The presence of Y-chromosomal sequences in the cells of patients with Turner-Syndrome (TS) is a risk factor for the development of gonadal tumors. Therefore and since demonstration of Y-material usually results in prophylactic gonadectomy optimal sensitivity and specificity of the diagnosis have to be attempted. We wanted to evaluate the diagnostic potential of cytogenetic investigations as routinely employed in TS. In the most comprehensive study published so far we screened 208 TS patients for the presence of Y-chromosomal sequences by polymerase chain reaction (PCR) specific for eight different loci along the Y-chromosome. Six patients (3%) without cytogenetic evidence of Y-chromosome were found to be Y-positive. Among 12 cases with marker chromosomes two more Y-chromosomal fragments were identified. Thus, PCR-screening for Y-specific sequences was shown to be a valuable tool in the clinical management of Turner patients.     

Punctate epiphyses associated with Turner syndrome

The radiographic observation of stippled calcification in cartilage defines the chondrodysplasia punctata group of bone dysplasias. Several other diseases may be associated with the radiographic finding of punctate epiphyses, usually uncommonly – for example, trisomy 21. Other more subtle chromosomal abnormalities also associated with punctate epiphyses include microdeletions of the X chromosome. A case of Turner syndrome with punctate calcification of the epiphyses is described. Received: 17 October 1998 Accepted: 20 November 1998     

Growth-stimulating effects of human growth hormone therapy in patients with Turner syndrome

We determined the effect of pituitary human growth hormone treatment on the growth rate of 52 children with Turner syndrome. The pretreatment growth rate was 3.2 +/- 0.8 cm/yr. Growth hormone treatment (0.2 IU/kg three times per week) resulted in enhancement of the growth rate to 5.9 +/- 1.4 cm/yr for the first year of therapy. The bone age advanced approximately 1 year during the year of therapy. The growth hormone therapy was discontinued at 12 months, and the mean growth rate decreased to pretreatment levels, 3.1 +/- 1.9 cm/yr; 26 of 41 patients actually had post-treatment growth rates that were less than the pretreatment rate. Glucose tolerance tests at 6-month intervals did not indicate an effect of hGH treatment on glucose intolerance. Several patients had glucose intolerance that preceded hGH treatment, but this remained stable during treatment; glucose intolerance likely was related to obesity in this group of patients. Basal and hGH-stimulated somatomedin C levels (32 patients) correlated with age of the patient but not with growth rate during therapy. We conclude that hGH therapy can accelerate the growth rate of patients with Turner syndrome. The growth rate increased to "normal" levels and was dependent on continued treatment with hGH. If the response continues, long-term treatment of Turner syndrome may result in increased adult height.     

Differences in carbohydrate tolerance in Turner syndrome depending on age and karyotype

Carbohydrate homeostasis was evaluated in 47 girls with Turner syndrome and in 25 short normal girls by means of an oral glucose tolerance test. Of the Turner patients 34% showed an impaired glucose tolerance vs 8% of the controls (X ², P<0.05). Mean glucose levels were significantly higher and mean insulin levels and insulinogenic index significantly lower in young Turner patients aged 5–12 years but not in adolescents aged 12–16 years. In both groups of patients, insulin levels and the insulinogenic index were significantly lower than those of the controls. In Turner patients between 12 and 16 years, carbohydrate tolerance improved and this may be explained by the lack of oestrogen release in these patients. Glucose tolerance was normal in patients with mosaicism. We conclude that (1) carbohydrate tolerance is defective in young children with Turner syndrome but improves in puberty due to the almost complete absence of oestrogen-progestogen secretion; (2) a difference in carbohydrate tolerance is evident depending on karyotype.Abbreviation OGTT oral glucose tolerance test This study was supported by Consiglio Nazionalé Ricerche contract 86.01698.56