Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure.
A 16-year-old male patient had a syndrome that included growth retardation, mental retardation, hair shaft abnormalities, neurosensory hearing loss, contractures of the fifth fingers, ultraviolet B (UVB) photosensitivity, small testicular size, and elevated levels of follicle-stimulating hormone. Reduced hair sulfur content and a characteristic pattern of light and dark birefringent bands, seen when hairs were viewed with polarization microscopy, were typical of the low-sulfur hair syndrome. UVB photosensitivity and testicular failure have not previously been identified as components of this syndrome.
D000293:Adolescent; D004392:Dwarfism / Q000235:genetics; D006197:Hair / Q000378:metabolism; D006201:Hair Diseases / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010787:Photosensitivity Disorders / Q000235:genetics*; D013455:Sulfur / Q000378:metabolism*; D013577:Syndrome
D013455:Sulfur