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At least 19 recordsLinked to original sources
PubMed2004

Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span.

Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. Although each syndrome is caused by an abnormal number of chromosomes, or aneuploidy, they are distinct syndromes with learning disabilities and a predisposition toward autoimmune diseases,endocrinologic disorders, and cancers. Optimal health care requires a thorough knowledge of the unique health risks, psychoeducational needs, functional capabilities, and phenotypic variation associated with each condition. Syndrome-specific health care should complement standard preventive health care recommendations. Checklists and syndrome-specific growth grids should be used. Ongoing communication between specialists and primary care physicians and between pediatric and adult clinicians is essential. Support groups and Internet resources can benefit affected individuals and their families immensely.

Adolescent↗
PubMed2000

Neurodevelopmental and psychosocial aspects of Turner syndrome.

Turner syndrome (TS) is the complex phenotype of human females with complete or partial absence of the second sex chromosome, or monosomy X. A characteristic neurocognitive and psychosocial profile has also been described in TS females. Typically, specific deficits in visual-spatial/perceptual abilities, nonverbal memory function, motor function, executive function, and attentional abilities occur in TS children and adults of varying races and socioeconomic status. TS-associated psychosocial difficulties occur in the areas of maturity and social skills. We hypothesize that a subset of the neurocognitive deficits (visual-spatial/perceptual abilities) are genetically determined and result from abnormal expression of one or more X chromosome genes. In addition, a different subset of these neurocognitive deficits (memory, reaction time, and speeded motor function) result from estrogen deficiency and are at least somewhat reversible with estrogen treatment. The TS-associated psychosocial problems are most likely linked to these core neurocognitive deficits and do not reflect a separate and independent component of the syndrome. Turner syndrome research has progressed significantly over the last decade. The field has moved from descriptive reports based on single individuals or small clinical samples to the use of experimental designs with larger, more diverse and representative samples. This degree of variability among individuals with Turner syndrome in all domains (karyotype or genetic constitution, physical attributes, neurocognitive and social functioning) suggests the need to identify risk and protective factors contributing to the heterogeneity in the phenotype. Active education about TS and participation in patient advocacy groups such as the Turner Syndrome Society of the United States (http://www. turner-syndrome-us.org/) has provided new information for TS adults and families as well as a supportive peer group. MRDD Research Reviews 2000;6:135-141.

Adaptation, Psychological↗
PubMed2002

[Diabetes mellitus type 1 among the patients with Turner syndrome or Turner syndrome among the patients with diabetes mellitus type 1?].

INTRODUCTION: Turner syndrome (TS) is a chromosomal disorder occurring in approximately 1/2000 living female births and its essence is existence of only one normal X chromosome. There are data from many centres interested in TS which confirm increased frequency of impaired glucose tolerance, insulin resistance and diabetes mellitus (DM) type 2 in TS. Knowledge about DM type 1 in this syndrome is very limited. AIM OF STUDY: There are 2 girls in our clinic with TS (from among 75 diagnosed and treated) in whom diabetes mellitus was diagnosed and required insulinotherapy (type 1). THE AIM OF THE WORK: presentation of clinical appearance of TS and DM type 1 in both girls. A CASE REPORT: Patient LA: not very characteristic fenotype, karyotype 45,X, TS recognised in the age of 10-years, DM - 11-years. Patient BE: characteristic features, karyotype 45,X, TS recognised in the age of 8-years, DM - 3-years. CONCLUSION: 1. Each Turner syndrome case ought to arouse "diabetic vigilance". 2. Observation toward Turner syndrome is advisable in each short patient with diabetes mellitus.

English Abstract↗
PubMed1999

[Syndromes 12. Turner syndrome].

Turner syndrome is one of the most common chromosomal disorders. The incidence is about 1 on 2,500 till 1 on 10,000 living female young births. Short stature is the most common finding in patients with Turner syndrome. Besides short stature and gonadal dysgenesis, typical craniofacial and dental features are also present. Disturbance of the enchondral ossification results in abnormal craniofacial morphology. Oestrogen medication, to induce their puberty, and recombinant human growth therapy, to improve final height of these patients, are the most common treatment possibilities. It is the intention of this short paper to inform the dentist/orthodontist about the general aspects of the Turner syndrome. This information can be used in their treatment plan.

Adolescent↗
PubMed1998

Morbidity in Turner syndrome.

Turner syndrome afflicts approximately 50 per 100,000 females and is characterized by retarded growth, gonadal dysgenesis, and infertility. Much attention has been focused on growth and growth promoting therapies, while less is known about the natural course of the syndrome, especially in adulthood. We undertook this study to assess the incidence of diseases relevant in the study of Turner syndrome. The study period was from January 1, 1984 to December 31, 1993, and the study base was all women living in Denmark during the study period. We used data from the Danish Cytogenetic Central Register and the Danish National Registry of Patients to assess morbidity. This study supports several earlier studies reporting increased morbidity and confirms results of a recent study on cancer in Turner syndrome. Women with Turner syndrome seem to have an increased incidence of fractures, osteoporotic fractures in adulthood, and non-osteoporotic fractures in childhood. Furthermore, diabetes mellitus, both NIDDM and IDDM, was found with a markedly increased incidence in Turner syndrome, as well as ischemic heart disease, hypertension, and stroke. The risk of cancer, except cancer of the large bowel, does not seem to be elevated in Turner syndrome. Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, hyperinsulinemia and hyperuricemia). The present data may help to explain the decreased life span found in patients with Turner syndrome.

Adolescent↗
PubMed2001

Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome.

Turner syndrome (TS) is caused by an X chromosome aberration and is characterized by endogenous estrogen deficiency secondary to ovarian dysgenesis and short stature. Our aim was to study the prevalence of cardiovascular malformations and cardiovascular risk factors (blood pressure, blood lipids and glucose, coagulation factors, social factors, smoking habits) in adults with Turner syndrome in comparison with a female random population sample. One hundred women with Turner syndrome (aged 16-71 yr) underwent physical examination, echocardiography, electrocardiography, and blood sampling. Seventy-one of them were matched for age [mean age, 33.7 +/- 11 yr (range, 25-64)] with a random population sample (n = 213) of women [mean age, 34.8 +/- 9 yr (range, 25-64)] from the World Health Organization's Monitoring of Trends and Determinants in Cardiovascular Diseases Project, Göteborg. Six percent of Turner syndrome women were smokers compared with 25% in the population (P < 0.001). Turner syndrome women were relatively heavier and had a lower degree of leisure time physical activity than controls (P < 0.001). Diabetes and treatment for hypertension were present in 3 and 22% among Turner syndrome women vs. 2% (not significant) and 3% (P < 0.001) in controls, respectively. Cardiovascular malformations were found among 17% in Turner syndrome women (45,X dominated) vs. 0.5% in controls (P < 0.001). Systolic but not diastolic blood pressure was higher in Turner syndrome women. No differences were seen in serum total cholesterol, high- or low-density lipoprotein cholesterol, triglycerides, lipoprotein (a), or plasma fibrinogen concentrations between patients and controls. Diabetes or hypertension was not related to karyotype. In conclusion, congenital cardiovascular malformations were frequent. Most cardiovascular risk factors (glucose and lipid levels, fibrinogen, smoking habits) were not increased, but hypertension was more common in Turner syndrome women.

Adult↗
PubMed1995

Lipid abnormalities in Turner syndrome.

Turner syndrome is associated with insulin resistance, increased incidence of type II diabetes, and hypertension, all of which are cardiovascular risk factors. The purpose of this study was to evaluate the lipid profile of girls with untreated Turner syndrome, (aged 5 to 14 years; 68% 45,XO) and age-matched, normal girls. A total of 137 girls with Turner syndrome and 70 normal girls had lipid profile measurements, including cholesterol, high-density lipoprotein cholesterol, and triglycerides. Older girls with Turner syndrome (> 11.0 years) had increased cholesterol levels (p < 0.01), compared with control values (190 +/- 38 vs 165 +/- 26 mg/dl). Cholesterol levels were elevated in older subjects with Turner syndrome versus normal subjects, after adjustment for age, karyotype, and body mass index z score effects (p = 0.01). In the subjects with Turner syndrome but not the normal subjects, serum cholesterol values correlated with age, weight, and body mass index z score (p < 0.02). We conclude that adolescent girls with untreated Turner syndrome have significantly increased cholesterol levels, independent of age, body mass index z score, or karyotype, and that these precede any treatment with exogenous estrogen or growth hormone.

Adolescent↗
PubMed2004

A volumetric study of parietal lobe subregions in Turner syndrome.

Turner syndrome, a genetic disorder that results from the complete or partial absence of an X chromosome in females, has been associated with specific impairment in visuospatial cognition. Previous studies have demonstrated a relationship between parietal lobe abnormalities and visuospatial deficits in Turner syndrome. We used high-resolution magnetic resonance imaging to measure parietal lobe subdivisions in 14 participants with Turner syndrome (mean age 13 years 5 months, SD 5 years) and 14 age-matched controls (mean age 13 years 5 months, SD 4 years 7 months) to localize neuroanatomical variations more closely. Scans were acquired and analyzed for 14 females with Turner syndrome. Analyses of variance were used to investigate differences in regional parietal lobes. Females with Turner syndrome showed a bilateral parietal lobe reduction, specifically in the superior parietal and postcentral gyri. Full-scale IQ scores were significantly positively correlated with postcentral tissue volume in the Turner syndrome group. Structural differences in the parietal lobe are localized specifically to the anterior and superior parietal lobe and might be related to the visuospatial and visuomotor deficits associated with Turner syndrome.

Adolescent↗
PubMed1997

Absence of growth hormone effects on cognitive function in girls with Turner syndrome.

Turner syndrome (TS) is a genetic disorder characterized by short stature, gonadal dysgenesis, and a particular neurocognitive profile of normally developed language abilities (particularly verbal IQ) and impaired visual-spatial and/or visual-perceptual abilities. We have followed a large sample of girls with Turner syndrome who were enrolled in a long-term, double-blind, placebo-controlled trial of the effects of growth hormone (GH) treatment on final adult height. This study provides a unique opportunity to prospectively evaluate the effects of GH treatment on neurocognitive function in this population of girls with Turner syndrome. The GH- and placebo-treated Turner syndrome subjects were well matched for age, treatment duration, race, karyotype, and socioeconomic status. Treatment (GH or placebo) durations ranged from 1-7 yr. Whether GH deficiency and/or treatment in childhood and adolescence influences cognitive outcome in short children or GH-children is controversial. The major result of this study was the absence of GH treatment effects on cognitive function in girls with Turner syndrome. Our findings are in agreement with most of the previous studies that found no apparent growth hormone treatment effects on cognitive function in growth-hormone deficient children. We conclude that this study does not support a role for growth hormone in influencing childhood brain development in girls with Turner syndrome. Their characteristic nonverbal neurocognitive deficits were not altered with GH treatment into early adolescence.

Child↗
PubMed2001

Psychosocial development in adolescents with Turner syndrome.

Turner syndrome is a genetic condition in which part or all of the second X chromosome is missing. Our goal in this study was to examine the psychosocial adjustment of a sample of adolescent girls with Turner syndrome. Subjects included 122 girls with a diagnosis of Turner syndrome (TS) and a control group of 108 girls with no genetic disorder or chronic illness. Subjects were 13 to 18 years of age. A battery of questionnaires assessing social, academic, school, and behavioral functioning was administered. TS girls were seen as having significantly more problems in terms of social relationships and school progress and were more likely to meet criteria for attention-deficit hyperactivity disorder than control girls. The TS girls were also rated by a parent as less socially competent (e.g., fewer friends, less time with friends) than the control group. Social difficulties appear to be an area of vulnerability for TS girls. Counseling individuals with Turner syndrome and their families about the need to carefully develop and nurture social skills and relationships may prove useful in advancing the social adaptation of these young women.

Adaptation, Psychological↗
PubMed2004

Cardiovascular risk factors in Turner syndrome.

Turner syndrome is due to haploinsufficiency of X chromosome genes that escape inactivation and associates female phenotype, short stature, gonadal dysgenesis, somatic stigmata, cardiovascular and renal anomalies and a large spectrum of other disorders (autoimmune thyroiditis, osteoporosis, inflammatory bowel disease, chronic liver diseases). The increased mortality in Turner syndrome is primarily a result of its cardiovascular complications. Congenital cardiac anomalies (coarctation of the aorta, bicuspid aortic valve, anomalous venous drainage) are present in 23-40% of patients; there is an increased risk of aortic dilation (42%) and dissection, ischemic heart disease and the risk of hypertension is increased three fold. In addition, insulin resistance may be present in up to 50% of women with Turner syndrome and an atherogenic lipid profile (increased cholesterol, triglycerides) favors the development of coronary artery disease. Our study was aimed to reveal anomalies in Turner syndrome that may increase cardiovascular risk. We studied a group of 62 Turner patients aged 16-67 years (mean age 26.8 years, SD = 11.1 years) comparatively to 62 age matched controls. Glycemia over 100 mg% was found in 11.3% of Turner patients vs 1.6% of controls and cholesterolemia over 200mg% was found in 51.2% of Turner patients vs 14.5% of controls; 24.2% of Turner patients were overweight vs 17.8% of controls and 6.4% were obese vs 4.8% of controls. In the Turner group we found congenital cardiac anomalies in 17.8%, hypertension in 6.5%, renal anomalies 11.3%, and hypothyroidism 29.2%.

Adolescent↗
PubMed1999

Combination growth hormone and estrogen increase bone mineralization in girls with Turner syndrome.

Turner syndrome is characterized by osteopenia and impaired skeletal growth. Neither feature is normalized by current modes of hormone therapy. The purpose of this study was to determine whether GH would increase protein anabolism and provide additional benefit to a regimen of estrogen replacement on calcium metabolism in girls and women with Turner syndrome. Using stable isotopes of calcium and leucine, we determined calcium absorption, urinary calcium loss, calcium retention, deposition into bone, leucine rate of appearance from protein, leucine incorporation into protein, and leucine oxidation in seven girls (10-17 y of age) and four adult females (16-34 y of age) with Turner syndrome, before and after 3 mo of GH treatment. All adults were treated with estrogen (ethinyl estradiol, 50 micrograms/d) and progesterone before and throughout the study. Three girls received no estrogen, and four girls were treated with low-dose estrogen (ethinyl estradiol, 5 micrograms/d) in combination with GH. The addition of estrogen to GH treatment resulted in a significant increase in calcium absorption and deposition in girls. GH did not affect calcium kinetics in adults already receiving estrogen/progesterone replacement therapy, nor did GH alone affect calcium kinetics in girls, and neither GH nor estrogen affected protein metabolism. These data suggest that the addition of low-dose estrogen to a regimen of GH improves bone deposition and calcium metabolism in girls with Turner syndrome and that estrogen is facultative for GH effects on bone.

Adolescent↗
PubMed1999

Lymphatic vessel hypoplasia in fetuses with Turner syndrome.

Turner syndrome is associated with subcutaneous accumulation of fluid in the neck region that can be visualized sonographically from 10-14 weeks of gestation as massively increased nuchal translucency thickness. Possible mechanisms for this increased translucency include dilatation of the jugular lymphatic sacs because of developmental delay in the connection with the venous system, or a primary abnormal dilatation or proliferation of the lymphatic channels interfering with a normal flow between the lymphatic and venous systems. The aim of this study was to investigate the distribution of lymphatic vessels in nuchal skin tissue from fetuses with Turner syndrome compared with fetuses carrying trisomies 21, 18 and 13 and chromosomally normal controls. The distribution of vessels was examined by immunohistochemistry using a monoclonal antibody, PTN63, against 5' nucleotidase and an anti-laminin antibody. In normal control fetuses (n = 6) and those with trisomies 21 (n = 3), 18 (n = 2) and 13 (n = 2), PTN63-positive and laminin-positive vessels were evenly distributed throughout the dermis and subcutis. In Turner syndrome (n = 3), there was a chain of large vessels that stained with both PTN63 and laminin at the border between dermis and subcutis, but there was scarcity of vessels in the upper dermis and the subcutis. Using PTN63 alone, there were no positive vessels in the upper dermis. We conclude that in Turner syndrome lymphatic vessels in the upper dermis are hypoplastic.

Chromosomes, Human, Pair 13↗
PubMed2006

Personality traits in women with Turner syndrome.

Turner syndrome is caused by the total or partial absence of, or structural abnormalities in, one sex chromosome. A personality style characterized by traits related to low neuroticism and high extroversion has been reported for females with Turner syndrome, indicating possible genetic factors related to personality development. This study examines personality traits in 37 Swedish women with Turner syndrome using the Karolinska Scales of Personality Inventory. Compared to reference data, the subjects rated themselves as more sensation seeking, less detached, less verbally aggressive and less irritated. These results partially support previous findings. The subjects were divided into three karyotype groups: 45,X (n = 13), 45,X/46,XX or 45,X/45,XY (n = 13), and structural abnormalities (n = 11). Contrary to some previous findings, no differences in personality were found between the karyotype groups.

Adolescent↗
PubMed2006

Epidemiological, endocrine and metabolic features in Turner syndrome.

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.

Bone Density↗