Obstructive cardiomyopathy in a male dwarf with cryptorchidism.
Obstructive cardiomyopathy has been reported in cases of male and female Turner phenotype with normal chromosomes. We report here a case of a male dwarf with bilateral undescended testes and biventricular obstructive cardiomyopathy. Clinical features included choreoathetoid movements, chorioretinitis, bilateral nystagmus, and unusual red color of the hair, associated with some features of Turner phenotype. Endocrine studies were normal except for a lack of thyrotrophic stimulating hormone (TSH) stimulation. Propranolol removed the gradient during cardiac catheterization and relieved the exertional chest pain clinically.
D000328:Adult; D009202:Cardiomyopathies / Q000150:complications*; D003456:Cryptorchidism / Q000150:complications*; D004392:Dwarfism / Q000097:blood / Q000150:complications*; D006801:Humans; D008297:Male; D013972:Thyrotropin / Q000097:blood; D013973:Thyrotropin-Releasing Hormone; D014424:Turner Syndrome / Q000150:complications
D013973:Thyrotropin-Releasing Hormone; D013972:Thyrotropin