Abstract
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also known as Woodhouse-Sakati syndrome) is a rare autosomal recessive neuroendocrine and ectodermal disorder. The syndrome was first described by Woodhouse and Sakati in 1983, and 47 patients from 23 families have been reported so far. We report on an additional seven patients (four males and three females) from two highly consanguineous Arab families from Qatar, presenting with a milder phenotype of Woodhouse-Sakati syndrome. These patients show the spectrum of clinical features previously found in Woodhouse-Sakati syndrome, but lack evidence of diabetes mellitus and extrapyramidal symptoms. These two new families further illustrate the natural course and the interfamilial phenotypic variability of Woodhouse-Sakati syndrome that may lead to challenges in making the diagnosis. In addition, our study suggests that Woodhouse-Sakati syndrome may not be as infrequent in the Arab world as previously thought.