A total of 186 girls with clinical signs of Turner's syndrome were cytogenetically studied. From this total, 125 (67.20%) had abnormal and 61 (32.80%) normal karyotypes. Among the patients with abnormal karyotypes, 68 had negative sex chromatin (54.40%) and 57 positive sex chromatin (45.60%). Chromosomal studies in chromatin-negative patients allowed us to detect 44 karyotypes 45,X, 20 structural X anomalies (14 rings, 4 deletions for the long arm, 2 deletions for the short arm) and 4 patients with 45,X/46,XY mosaics, while chromosomal studies in chromatin-positive patients revealed 57 abnormal and 61 normal karyotypes. The isochromosome for the long X arm was more frequent, either in pure line or in mosaicism, than the 45,X/46,XX mosaic. From the 61 patients with normal karyotypes, 21 had significative short stature (under the 3rd percentile) as the main feature, with the bone age equal to, or advanced for chronological age. The remaining 40 patients had, in addition, other typical features of Turner's syndrome. Although the possibility of a not detected mosaic cannot be discarded, its absence would suggest a genetic etiology.

Turner syndrome is one of the more common genetic disorders, associated with abnormalities of the X chromosome, and occurring in about 50 per 100,000 liveborn girls. Turner syndrome is usually associated with reduced adult height, gonadal dysgenesis, and thus insufficient circulating levels of female sex steroids, and infertility. A number of other signs and symptoms are seen more frequent with the syndrome. Morbidity and mortality is increased. The average intellectual performance is within the normal range. With respect to epidemiology, cardiology, endocrinology and metabolism a number of recent studies have allowed new insight. Treatment with GH during childhood and adolescence allows a considerable gain in adult height. Puberty has to be induced in most cases, and female sex hormone replacement therapy is given during adult years. The proper dose of HRT has not been established, and, likewise, benefits and/or drawbacks from HRT has not been thoroughly evaluated. Since the risk of cardiovascular and endocrinological disease is clearly elevated, proper care during adulthood is emphasized. In summary, Turner syndrome is a condition associated with a number of disease and conditions which are reviewed in present paper.

Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome. Pediatrics. 2005 Mar;115(3):732-5.

OBJECTIVES: Turner syndrome (TS) is associated with congenital cardiovascular defects (CCVDs), most commonly bicuspid aortic valve (BAV) and aortic coarctation (COARC), congenital renal anomalies, and fetal lymphedema. It has been theorized that compressive or obstructive effects of fetal lymphedema may actually cause cardiovascular and renal dysmorphogenesis in TS. The objective of this study was to determine whether there is a specific association between a history of fetal lymphedema and CCVDs in monosomy X, or TS, independent of karyotype or general severity of the phenotype. METHODS: This was a prospective study of 134 girls and women who have TS (mean age: 30 years) and were clinically evaluated for evidence of fetal lymphedema, classified as central (signified by the presence of neck webbing) or peripheral (current or perinatal, or dysplastic fingernails). The presence of BAV and/or COARC was detected by magnetic resonance imaging combined with echocardiography, and renal anomalies were determined by ultrasound. RESULTS: There is a strong association between developmental central lymphedema, signified by neck webbing, and the presence of BAV (chi2 = 10) and COARC (chi2 = 8). The association between webbed neck and CCVDs was independent of karyotype. There was, in contrast, no significant association between renal anomalies and webbed neck or CCVDs. CONCLUSIONS: The strong, statistically significant association between neck webbing and the presence of BAV and COARC in TS suggests a pathogenetic connection between fetal lymphatic obstruction and defective aortic development. The presence of neck webbing in TS should alert the clinician to the possibility of congenital cardiovascular defects.

A 16-year-old girl with mosaic Ullrich-Turner syndrome [45,X/46,X,i(Xq)] had agenesis of the left breast, nipple, pectoralis major, and agenesis of hair follicles of the left axilla. This appears to be the first description of this anomaly in the Ullrich-Turner syndrome.

BACKGROUND: Women with Turner's syndrome have an increased risk of congenital cardiac malformations, ischaemic heart disease, hypertension and stroke. Aortic dissection seems to occur with increased frequency. AIM: To describe in more detail aortic dissection as encountered in Turner's syndrome, giving attention to clinical, histological and epidemiological aspects. MATERIALS AND METHODS: Based on a retrospective study, we describe the clinical, karyotypic, and epidemiological aspects of aortic dissection as encountered in cases of Turner's syndrome seen in Denmark and Sweden. RESULTS: The median age at onset of aortic dissection in 18 women was 35 years, ranging from 18 to 61 years. Fourteen of 18 women had a 45,X karyotype, while 2 patients had 45,X/45,XY, and 2 had the 45,X/46,X+r(X) complement, respectively. Echocardiography was performed in 10 of 18 patients before their acute illness, and showed signs of congenital cardiac disease, with either bifoliate aortic valves, dilation of the aortic root, or previous aortic coarctation evident in most patients. In 5 patients evidence of a bifoliate aortic valve was conclusive. Hypertension was present in 5 of 18 patients, while 10 of the patients died from aortic dissection, of so-called type A in 6, type B in 3, while in the final case the origin of dissection could not be determined. Biochemical analysis showed altered ratio between type I and type III collagen. Histology showed cystic medial necrosis in 3 of 7 cases. We estimated an incidence of dissection of 36 per 100,000 Turner's syndrome years, compared with an incidence of 6 per 100,000 in the general population, and a cumulated rate of incidence of 14, 73, 78, and 50 per 100,000 among 0-19, 20-29, 30-39, and 40+ year olds, respectively. CONCLUSION: Aortic dissection is extremely common in the setting of Turner's syndrome, and occurs early in life. Patients with Turner's syndrome should be offered a protocol for clinical follow-up similar to that provided for patients with Marfan syndrome, and each clinic should embrace a programme for follow-up.