The influence of renal and cardiovascular abnormalities on blood pressure in Turner syndrome

Nathwani, Nitya; Unwin, Robert J.; Brook, C. G. D.; Hindmarsh, Peter C.

doi:10.1046/j.1365-2265.2000.00961.x

Cited by 72 publications

(44 citation statements)

References 36 publications

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“…Most of these girls had normal hepatic ultrasound, while fatty infiltration of the liver was detected in 20%, most with normal liver function tests ( Table 1). Hypertension was previously reported to affect approximately 30% of girls with TS, independent of congenital renal or cardiovascular defects [10], and we have confirmed this finding. It is important to use height-based normal values to evaluate blood pressure, since many girls are quite small.…”

Section: Phenotypesupporting

confidence: 80%

Turner syndrome in childhood and adolescence

McCarthy

Bondy²

2008

Expert Review of Endocrinology & Metabolism

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This article reviews current patterns of ascertainment, clinical characteristics and quality of care for girls with Turner syndrome, based on a cohort of 100 girls (aged 7-17 years) prospectively evaluated at the National Institute of Child Health since 2001. Approximately 25% were diagnosed prenatally or at birth owing to webbed neck and other features typical of fetal lymphedema, few were diagnosed during early childhood, with the majority undiagnosed until age 9 years or older. Major clinical features included thyroid autoimmunity (51%), congenital cardiovascular anomalies (44%), liver abnormalities (36%), hypertension (34%), hearing loss (30%) and renal anomalies (18%). Of the group, 75% were being or had been treated with growth hormone. These girls were an average of 5 cm taller and significantly less obese than the untreated group. We discuss new guidelines for the initiation of puberty and urgent research needed to promote the health and longevity of girls suffering from Turner syndrome as they become adults. Keywords aorta; bicuspid aortic valve; lymphedema; phenotype; short stature; Turner syndrome; X chromosome Turner syndrome (TS) is a relatively common disorder of female development (affecting one out of 2000 births) caused by complete or partial monosomy for the X chromosome during embryonic development. The most consistent features are short stature and premature ovarian failure. Full-scale IQ is usually normal, with verbal scores typically greater than performance scores [1]. With timely diagnosis and intervention, girls with TS may gain improved height, benefit from attention to nonverbal learning difficulties early in school and have puberty at an age similar to their peers. Importantly, all these girls need comprehensive cardiovascular evaluation, since over a third have an underlying congenital cardiovascular defect that places them at an increased risk for life-threatening complications, such as pulmonary hypertension (e.g., partial anomalous pulmonary venous connection) or aortic dissection (i.e., bicuspid aortic valve or dilated ascending aorta). This article focuses on patterns of diagnosis and growth hormone (GH) (59%) are 45,X. The average age of our pediatric study subjects is 12.5 years, with a median of 13 years. The age of diagnosis demonstrates a distinct biphasic pattern ( Figure 1). Four girls were diagnosed prenatally, either incidentally during routine screening or because of an abnormal fetal ultrasound [2]. In total, 18 were diagnosed at birth because of neck webbing and associated signs of lymphedema and, in many cases, severe congenital heart disease. Surprisingly, very few girls were diagnosed during early childhood, despite the fact that growth failure is usually evident from shortly after birth [3], with 60% of girls not diagnosed until age 9 years or later. PhenotypeCommon phenotypic features of the NIH pediatric TS study group are summarized in Table 1. Only 22% of the group had neck webbing, or pterygium colli. This feature is defined as the presence of (u...

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Section: Phenotypesupporting

confidence: 80%

Turner syndrome in childhood and adolescence

McCarthy

Bondy²

2008

Expert Review of Endocrinology & Metabolism

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“…Proper intervention (including antibiotic treatment/prophylaxis or surgical correction of obstruction or reflux) is critical to prevent permanent renal scarring and resultant sequelae. Congenital renal G41 Clinical Practice Guideline C H Gravholt and others Turner syndrome clinical practice guideline www.eje-online.org anomalies have, in a single study, not been shown to increase the risk of hypertension (451). However, renal scarring due to prolonged reflux or recurrent infections can also result in elevated blood pressure.…”

Section: 112mentioning

confidence: 99%

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Gravholt¹,

Andersen

Conway

et al. 2017

European Journal of Endocrinology

825

1,259

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Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society of Endocrinology, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Human Reproduction and Embryology and Summary of recommendationsThe recommendations (R) are worded as recommend (strong recommendation) and suggest (weak recommendation). We formally graded only the evidence underlying recommendations for therapeutic choices. The quality of evidence behind the recommendations is classified as very low (⨁◯◯◯), low (⨁⨁◯◯), moderate (⨁⨁⨁◯) and strong (⨁⨁⨁⨁). See further section 'Summary of methods used for guideline development'. Diagnosis and geneticsR 1.1. We recommend considering a diagnosis of TS in phenotypic females with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, associated with one or more typical clinical manifestations of TS (⨁⨁⨁⨁). R 1.2. We recommend against considering a diagnosis of TS in females with one X chromosome and a deletion distal to Xq24 on the other X chromosome, and in women over the age of 50 years with less than 5% 45,X mosaicism (⨁⨁◯◯). R 1.3. We suggest that the new general surveillance management guideline applies to TS patients with any karyotype (⨁⨁◯◯). R 1.4. We recommend to consider testing for Turner syndrome (TS) in a female with typical signs (Table 2) (⨁⨁⨁⨁). R 1.5. We ...

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“…At inclusion, many Turner syndrome girls had increased systolic and diastolic blood pressure in comparison with a normal reference material, but at the end of the study there was a slight decrease in the age-adjusted diastolic blood pressure (170). In a recent cross-sectional study of girls with Turner syndrome receiving either no treatment (mostly young girls), GH, or GH in combination with estradiol and a progestin, 17% had elevated blood pressure in comparison with age-matched reference data (171). Furthermore, by 24-h blood pressure evaluation, it was shown that 57% of all girls had a blunted nocturnal fall in blood pressure ('non-dippers') (171, 172).…”

Section: Growth Promoting Treatment In Turner Syndrome -Growth Hormonmentioning

confidence: 99%

Epidemiological, endocrine and metabolic features in Turner syndrome

2004

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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 frequently with the syndrome. Morbidity and mortality are increased. The average intellectual performance is within the normal range. A number of recent studies have provided new insights with respect to epidemiology, cardiology, endocrinology and metabolism. Treatment with GH during childhood and adolescence allows a considerable gain in adult height, although verylong-term consequences of this treatment are not clear. Puberty has to be induced in most cases, and female sex hormone replacement therapy is given during the adult years. The proper dose of hormone replacement therapy (HRT) has not been established, and, likewise, benefits and/or drawbacks from HRT have 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 diseases and conditions which are reviewed in the present paper.

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The influence of renal and cardiovascular abnormalities on blood pressure in Turner syndrome

Cited by 72 publications

References 36 publications

Turner syndrome in childhood and adolescence

Turner syndrome in childhood and adolescence

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Epidemiological, endocrine and metabolic features in Turner syndrome

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