Summary: 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 bi‐ventricular obstructive cardiomyopathy. Clinical features included choreoathetoid movements, chorioretin‐itis, 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 thy‐rotrophic stimulating hormone (TSH) response to thy‐rotrophic releasing hormone (TRH) stimulation. Pro‐pranolol removed the gradient during cardiac cathe‐terization and relieved the exertional chest pain clinically.
- Noonan Ullrich syndrome
- male Turner syndrome
- obstructive cardiomyopathy
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine