Screening for comorbidities lacking in young girls with Turner’s syndrome
Despite changes that have occurred in medical practice after the implementation of international guidelines for Turner’s syndrome, screening for associated comorbidities was deficient in more than 50% of young girls with the disease.
Zeina M. Nabhan, MD, and Erica A. Eugster, MD, both of the department of pediatric endocrinology and diabetology at Indiana University School of Medicine, reviewed the medical records of 124 girls with Turner’s syndrome (mean age, 13.2 years). The girls were followed for a mean of six years in a pediatric endocrinology clinic at a tertiary care center with a focus on changes in management since 2007. Average age at diagnosis was 4.1 years.
The researchers presented the data at a Lawson Wilkins Pediatric Endocrine Society session at the 2010 Pediatric Academic Societies Annual Meeting.
The review revealed that hearing tests were performed in 51% of the girls, thyroid screening in 95% and blood pressure measurement in 100%.
Before 2007, no girl was screened for celiac disease, liver disease, lipids, routine electrocardiography or cardiac MRI. However, after implementation of the guidelines in 2007, 62% of girls were tested for celiac disease, 50% had liver screening and 10% had lipid levels measured. ECG was performed in 19% of girls and a cardiac MRI was obtained in 32% of girls aged 10 years and older. Bovine aortic arch, mild to moderate aortic root/ascending aortic dilatation and elongation of transverse aortic arch were noted on the MRI; routine ECG did not detect these findings. Primary ovarian failure was present in 87% of the girls.
The average age of estrogen replacement was 14 years. Conjugated equine oral estrogen was the main mode of estrogen replacement in 65% of girls. A significant increase was found in the use of transdermal estrogen after 2007 — 78% of girls were treated with transdermal estrogen vs. 10% of girls before 2007. Age at initiation of estrogen replacement therapy remain unchanged before and after 2007.
“Special emphasis should be directed at surveillance for hyperlipidemia, liver abnormalities and cardiac health — particularly in older girls,” the researchers said.
For more information:
- Nabhan ZM. #1455.47. Presented at: 2010 Pediatric Academic Societies Annual Meeting; May 1-4, 2010; Vancouver, British Columbia.
LWPES: Turner Syndrome Patients Need More than Growth Hormone
By Ed Susman, Contributing Writer, MedPage Today
Published: May 03, 2010
Reviewed by Dori F. Zaleznik, MD; Associate Clinical Professor of Medicine, Harvard Medical School, Boston and
Dorothy Caputo, MA, RN, BC-ADM, CDE, Nurse Planner
| LWPES: Turner Syndrome Patients Need More than Growth Hormone |
VANCOUVER -- Researchers here aid that girls diagnosed
with Turner Syndrome not only have growth deficiency,
but also are prone to obesity, diabetes and other
cardiovascular risk factors.
"Often
doctors will see a patient with Turner Syndrome and
prescribe human growth hormone treatment and may
consider that is all that is needed for these
children," said Zeina M. Nabhan, MD, of the James
Whitcomb Riley Hospital for Children at the Indiana
University School of Medicine in Indianapolis.
However, children with Turner Syndrome have a number of
other potential health risks, including the tendency
toward weight gain and obesity, Nabhan said during a
poster presentation on TS treatment at a session of the
Lawson Wilkins Pediatric Endocrine Society, included in
the Pediatric Academic Societies annual meeting.
"While changes in medical practice have occurred since
establishment of the international Turner syndrome
guidelines," she wrote in her abstract, "screening for
associated comorbidities was deficient in > 50% of
our patients with TS."
Nabhan explained that Turner Syndrome is caused by the
complete or partial absence of an X chromosome in
girls.
"Although short stature is the most prominent
characteristic of this disorder, affected girls have a
wide range of medical problems, including cardiac,
renal, ovarian and hearing problems," she said. As a
result, she said, Turner Syndrome patients require
life-long surveillance.
In reviewing the medical records of 128 girls
identified with Turner Syndrome, Nabhan said the
average age of diagnosis was about age 4.
About half were diagnosed at birth because of
dysmorphic features, while 48% were identified at about
age 9 due to short stature.
At diagnosis, 37% of the girls had cardiac
abnormalities, detected either through echocardiography
or magnetic resonance imaging, while 32.4% exhibited
renal abnormalities and 38% had hyperlipidemia, Nabhan
reported.
The girls were initiated on human growth hormone at an
average age of 7.3 years and they achieved their final
adult height after about 5.7 years of therapy.
In the study, she noted that at the patients' last
visit, 48.7% of the girl had body mass index levels in
the overweight range and of those girls, 57.3% had a
body mass index in the obese range.
Nabhan said the prevalence of co-morbidities in her
study was similar to that reported elsewhere.
"Our findings emphasize the need for continual
education for all physicians involved in the care of
girls with Turner Syndrome. Special emphasis should be
placed on routine screening for hyperlipidemia, liver
disease and cardiac health, particularly in older
girls," she said.
"Prospective studies, aimed not only on detection, but
also at prevention of co-morbidities associated with
Turner syndrome, are needed."
Nabhan
had no relevant disclosures.
Primary
source:
Pediatric Academic Societies
Source reference:
Nabhan Z, et al, "Medical care of girls with Turner
Syndrome; Where are we lacking?" PAS 2010; Abstract
1455.47.