Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis.
Cardiovascular and endocrine complications in male or sexually-ambiguous patients carrying a 45,X/46,XY mosaicism are rarely discussed in the medical literature. However, young female patients with a diagnosis of Turner's disease usually benefit from regular cardiologic and endocrine follow-up, in accordance with current international guidelines. We report the case of a male patient, aged 23 years, with an ambiguous phenotype known to harbor a mixed gonadic 45,X/46,XY type dysgenesis. The patient was admitted to the cardiology ward for investigation and management of cardiac failure secondary to both a biscupid aortic valve and ascending aorta aneurysm. This case report, and the few others, which have been previously reported in the literature, emphasizes the importance of cardiologic and endocrine follow-up in male carriers of 45,X/46,XY mosaicism.
Endocrinologie, CHU Saint-Pierre, Exposition-Universelle, Bruxelles, Belgium. nathbakoto@hotmail.com
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Bakoto
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Corman
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Legros
D001011:Aorta / Q000473:pathology* / Q000601:surgery; D001014:Aortic Aneurysm / Q000150:complications* / Q000473:pathology* / Q000601:surgery; D001794:Blood Pressure; D006348:Cardiac Surgical Procedures; D025063:Chromosome Disorders / Q000150:complications; D004562:Electrocardiography; D006059:Gonadal Dysgenesis / Q000150:complications* / Q000473:pathology*; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D007037:Hypothyroidism / Q000150:complications; D008297:Male; D013967:Thyroiditis, Autoimmune / Q000150:complications; D014424:Turner Syndrome / Q000150:complications; D055815:Young Adult
D019382:Human Growth Hormone