Genetic studies in a family with inverted nipples (mammillae invertita)

Abstract

A Jewish Sephardi family is reported in which 16 members are affected (15 females and 1 male) with inverted nipples. The one affected male and his brother also have gynecomastia. Under the assumption that this trait is transmitted as an autosomal dominant, linkage studies were done but were not revealing. Further family and investigative studies are needed in this disorder to understand better its pathogenesis and precise mode of genetic transmission.