Turner Syndrome News and Research

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Turner syndrome affects approximately 1 out of every 2,500 female live births worldwide. It embraces a broad spectrum of features, from major heart defects to minor cosmetic issues. Some individuals with Turner syndrome may have only a few features, while others may have many. Almost all people with Turner syndrome have short stature and loss of ovarian function, but the severity of these problems varies considerably amongst individuals.

Growth disorders in children can be detected earlier using new growth monitoring tools

Children's growth disorders can be detected earlier and more efficiently with the help of new growth monitoring tools, according to research from the University of Eastern Finland. These tools include up-to-date growth reference curves, evidence-based screening cut-off values for abnormal growth and automated growth monitoring based on electronic health records.

19 Mar 2015

Scientists develop potential new therapy based on cow's immune molecules for hormone deficiencies

To help people with hormone deficiencies, scientists at The Scripps Research Institute have developed a potential new therapy based on an unlikely model: immune molecules from cows.

9 Feb 2015

New toolkits help young adults navigate shift from pediatric to adult health care

For young adults who have been diagnosed with a chronic condition like Type 1 diabetes or growth hormone deficiency, health concerns can add a degree of difficulty to transitions like leaving for college or living alone for the first time.

30 Jul 2014

Childhood oestrogen may normalise thelarche in Turner syndrome

Treating girls with Turner syndrome with low-dose oestrogen from childhood results in earlier thelarche and a slower tempo of puberty, research shows.

16 Jun 2014

‘Surprising’ effect of growth hormone on BMI in normal-weight children

Researchers have found that the body mass index standard deviation score increases in normal-weight children receiving growth hormone treatment.

16 Jun 2014

Longer looks: Vermont's single payer system; Nevada's cancer cluster; the toll of dementia on a family

Skatchewan is a vast prairie province in the middle of Canada. It's home to hockey great Gordie Howe and the world's first curling museum. But Canadians know it for another reason: it's the birthplace of the country's single-payer health-care system.

11 Apr 2014

EU research project seeks to improve care for patients with adrenal and gonadal hormonal imbalances

The Charité - Universitätsmedizin Berlin is now commencing a new EU research project, dsd-LIFE, to improve clinical care in individuals suffering from hormonal disorders of the gonads and adrenals.

30 Oct 2013

DASA Group to offer Natera's non-invasive prenatal test for detection of genetic syndromes

DASA Group and Natera today announced that DASA Group will begin offering Natera's non-invasive prenatal test Panorama for the detection of genetic syndromes common in the population, such as trisomy 21 (Down syndrome), trisomy 13 (Patau Syndrome ), trisomy 18 (Edwards syndrome) and monosomy X (Turner syndrome).

From Natera 8 Aug 2013

Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics

A new category of non-invasive genetic screening tests is gaining a great deal of interest in the medical field – including from Quest Diagnostics -- for its potential to help screen women during pregnancy for genetic abnormalities known as trisomies, the most common of which is Down syndrome.

From Quest Diagnostics 13 Mar 2013

Quest Diagnostics offers access to a new non-invasive prenatal test developed by Natera

Quest Diagnostics (NYSE:DGX), the world’s leading diagnostic information services company, and Natera, a leading innovator in prenatal genetic testing, today announced that Quest Diagnostics will offer physicians access to Panorama™, a new non-invasive prenatal test developed by Natera.

From Quest Diagnostics 21 Feb 2013

Verinata Health to present two key studies on verifi prenatal test at ISPD conference

Verinata Health, Inc., a privately-held company dedicated to maternal and fetal health, today announced that physicians across the country are now using the verifi prenatal test.

1 Jun 2012

Massively parallel sequencing effective in diagnosing fetal aneuploidies

In a study to be presented today at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting -, in Dallas, Texas, researchers will report findings that indicate that massively parallel sequencing can be used to diagnose fetal aneuploidies, including Down syndrome, Edwards syndrome, Patau syndrome and Turner syndrome.

13 Feb 2012

Pregnancy via egg donation for women with Turner's syndrome potentially risky

Pregnancy via egg donation for women with Turner's syndrome is potentially risky, both for the mother and the child, according to a multi-centre study presented today at the European Congress of Endocrinology in Rotterdam.

4 May 2011

Study finds association between ERBB4 gene, LVOT malformations

A gene known to be important in cardiac development has been newly associated with congenital heart malformations that result in obstruction of the left ventricular outflow tract. These are the findings from a study conducted by Nationwide Children's Hospital and appearing in the journal Birth Defects Research Part A.

30 Apr 2011

March of Dimes honors Whitehead Institute Director for Developmental Biology work

Whitehead Institute Director David Page has been named a recipient of the 2011 March of Dimes Prize in Developmental Biology. The prize honors Page's groundbreaking body of research on the human Y chromosome.

22 Apr 2011

Low doses of estrogen, growth hormone can increase height in girls with Turner syndrome

Giving girls with Turner syndrome low doses of estrogen, as well as growth hormone, years before the onset of puberty, increases their height and offers a wealth of other benefits, say a team of researchers led by Thomas Jefferson University.

31 Mar 2011

Girls with medical conditions causing short stature go undiagnosed

Primary care doctors are less likely to refer short girls than short boys for diagnostic testing that can reveal underlying medical reasons for their short stature, according to a new study of an urban pediatric population in Philadelphia. Girls with medical conditions causing their short stature may go undiagnosed, or may be diagnosed later than boys, limiting timely treatment.

21 Mar 2011

Researchers develop new DNA test for accurate detection of Turner syndrome in children

As a child grows, a short stature is not usually cause for concern, but it is often the only sign of a condition called Turner syndrome. Prevalent in girls, Turner syndrome is a genetic defect that short-circuits normal growth and leads to cardiac and renal problems. It is not commonly detected until age 10 or older when a youngster's unusually short height raises suspicions.

16 Feb 2011

Study demonstrates new test for early diagnosis of Turner syndrome

A recent study accepted for publication in The Endocrine Society's Journal of Clinical Endocrinology & Metabolism (JCEM) has demonstrated a novel and accurate test for early diagnosis of Turner syndrome. Turner syndrome affects one in 1,500 to 2,000 female live births and early diagnosis allows for the timely management of short stature and co-morbid conditions including cardiac and renal problems.

9 Dec 2010

CGH, FISH techniques effective for postmortem analysis of fetuses, infants with congenital anomalies

New techniques to detect chromosomal abnormalities can offer a higher degree of accuracy. Chromosomal abnormalities are a well-known cause of multiple congenital anomalies, and conventional methods of culture analysis have proven unsuccessful in 10% to 40% of cases. Comparative genomic hybridization (CGH) and fluorescent in situ hybridization (FISH) techniques were tested and found successful by analyzing tissue from children who had multiple congenital anomalies.

9 Jun 2010