Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.

Abstract

CONTEXT:

Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis.

OBJECTIVE:

Our objective was to investigate the yield of an initial standardized multidisciplinary screening in adult TS patients.

DESIGN AND SETTING:

This was an observational study at a multidisciplinary care unit for adult women with TS.

PARTICIPANTS:

Participants were adult women with TS (n = 150). Mean age was 31.0 ± 10.4 yr, with 47% karyotype 45,X.

INTERVENTIONS:

All women were consulted by an endocrinologist, a gynecologist, a cardiologist, an otorhinolaryngologist, and when indicated, a psychologist. The screening included magnetic resonance imaging of the heart and aorta, echocardiography, electrocardiogram, dual-energy x-ray absorptiometry, renal ultrasound, audiogram, and laboratory investigations according to international expert recommendations.

MAIN OUTCOME MEASURES:

New diagnoses and prevalence of TS-associated morbidity were evaluated.

RESULTS:

Thirty percent of patients currently lacked medical follow-up, and 15% lacked estrogen replacement therapy in the recent last years. The following disorders were newly diagnosed: bicuspid aortic valve (n = 13), coarctation of the aorta (n = 9), elongation of the transverse aortic arch (n = 27), dilation of the aorta (n = 34), osteoporosis (n = 8), osteopenia (n = 56), renal abnormalities (n = 7), subclinical hypothyroidism (n = 33), celiac disease (n = 3), glucose intolerance (n = 12), dyslipidemia (n = 52), hypertension (n = 39), and hearing loss warranting a hearing aid (n = 8). Psychological consultation was needed in 23 cases.

CONCLUSIONS:

Standardized multidisciplinary evaluation of adult women with TS as advocated by expert opinion is effective and identifies significant morbidity. Girls with TS benefit from a careful transition to ongoing adult medical care.

• Authors: Kim Freriks, Janneke Timmermans, Catharina C M Beerendonk, Chris M Verhaak, Romana T Netea-Maier, Barto J Otten, Didi D M Braat, Dominique F C M Smeets, Dirk H P M Kunst, Ad R M M Hermus, Henri J L M Timmers
• Journal: The Journal of clinical endocrinology and metabolism (J Clin Endocrinol Metab) Vol. 96 Issue 9 Pg. E1517-26 (Sep 2011) ISSN: 1945-7197 [Electronic] United States
• PMID: 21752892 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Adult
• Aorta (diagnostic imaging, physiopathology)
• Aortic Coarctation (complications, diagnosis, diagnostic imaging)
• Dyslipidemias (complications, diagnosis)
• Female
• Follow-Up Studies
• Hearing Loss (complications, diagnosis)
• Heart Defects, Congenital (complications, diagnosis, diagnostic imaging)
• Humans
• Hypertension (complications, diagnosis)
• Osteoporosis (complications, diagnosis)
• Turner Syndrome (complications, diagnostic imaging, physiopathology)
• Ultrasonography