Comorbidities often undiagnosed in women with Turner’s syndrome

Freriks K. J Clin Endocrinol Metab. 2011;doi:10.1210/jc.2011-0346.

Issue: September 2011

A multidisciplinary approach to evaluation may help physicians diagnose various comorbidities such as osteoporosis and hyperthyroidism that are often missed in adult women with Turner’s syndrome, researchers said.

According to results from a Dutch study, 150 women with Turner’s syndrome (mean age, 31 years) had 2.3 more diagnosed diseases after screening by physicians from various specialties, including endocrinology, gynecology, cardiology, otorhinolaryngology and, in some cases, psychology, than before evaluation. Individual patients had an average of 1.2 diagnoses before screening and 3.5 after screening. Women with karyotype 45,X had a greater increase in new diagnoses after multidisciplinary evaluation when compared with those with other karyotypes, the researchers said.

Screening detected the following previously undiagnosed conditions:

Cardio-aortic anomalies, including bicuspid aortic valve, coarction of the aorta, dilation of the aorta and elongation of the transverse aortic arch in 40.7% of patients.
Osteopenia in 37.3%.
Dyslipidemia in 34.7%.
Hypertension in 26%.
Subclinical hypothyroidism in 22%.
Lack of hormone therapy despite estrogen deficiency in 15.3%.
Impaired glucose tolerance in 8%.
Osteoporosis in 5.3%.
Hearing loss requiring a hearing aid in 5.3%.

The researchers also identified 23 women requiring psychological counseling for various reasons, such as dealing with Turner’s syndrome-related limitations in daily life, low self-esteem, nonassertiveness, lack of social support and infertility-related emotional problems.

Data indicated that 76% of women received pediatric care while children. Of the entire cohort, 26 were referred for transition from pediatric to adult care within the researchers’ specialized medical center in the Netherlands for patients with Turner’s syndrome. Thirty percent of study participants, however, had not received medical follow-up for an average of 12 years before visiting the clinic. The researchers said these patients benefited most from screening.

“Standardized multidisciplinary evaluation of adult women with [Turner’s syndrome] yields significant previously undiagnosed morbidity,” they wrote. “[Turner’s syndrome] patients are therefore likely to benefit from a careful transition from pediatric into adult medical care, consisting of a multidisciplinary service with standardized screening for [Turner’s syndrome]-associated morbidity.”

Disclosure: Two researchers report receiving financial support for this work from Pfizer and Novo Nordisk.

Although short stature and ovarian failure are the most prominent characteristics associated with Turner's syndrome, affected girls and women have a wide range of associated comorbidities necessitating lifelong follow-up and screening. To that effect, international consensus guidelines were put forward for standard of care and periodic screening; however, poor adherence to these recommendations remains a major problem. This study, like others before it, clearly highlights this issue. One of the striking findings of this study is that although 70% of the patients were referred from a pediatric care center or a subspecialty clinic, the majority of the patients still had medical problems that were not previously diagnosed. Similarly, we recently found in a cohort of young girls and adolescents with Turner's syndrome that 50% of patients lacked the recommended care despite follow-up by pediatric endocrinologists. The reasons behind failure of compliance with the international consensus guidelines are unclear and likely multifactorial. However, given the high rates of morbidities associated with Turner's syndrome, patient education and initiation of early screenings during childhood might improve overall adherence with recommended care as those girls transition from the pediatric to the adult world. Moreover, collaborative efforts between primary care physicians and subspecialists are needed in order to improve the diagnosis, screening and follow-up of all girls and women with TS.

- Zeina Nabhan, MD, MS
Riley Hospital for Children
Indiana University School of Medicine

Disclosure: Dr. Nabhan reports no relevant financial disclosures.

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