Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput, sparse eyebrows, absence of breast tissue, absent ovaries, mild-moderate dorsal kyphosis, thin upper lip and unilateral sensorioneural deafness in one of them. They were the product of a Turkish consanguineous marriage. The clinical course for our patients is similar to two families reported by Al-Awadi et al. [Al-Awadi et al. (1985) Am J Med Genet 22:619-622] and Megarbane et al. [Megarbane et al. (2003) Am J Med Genet Part A 119A:214-217]. This report supports the literature by proposing an autosomal recessive syndrome which was firstly reported by Al-Awadi et al. [Al-Awadi et al. (1985) Am J Med Genet 22:619-622]. This condition may be due to a founder mutation.
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