Pubertal disorders in inv dup(15) syndrome

Duplication of chromosome 15 (inv dup[15] chromosome) is the most common su pernumerary marker chromosome in humans. Inv dup(15) chromosomes are common ly associated with mental retardation, epilepsy, behavioral problems and st ructural malformations. Ten patients (4 male, 6 female) were detected with inv dup(15) syndrome. At clinical follow-up three girls showed pubertal disorders: two with central precocious puberty and one with ovarian dysgenesis. As has already been found in other patients with chromosome 15p abnormaliti es, we believe that gynecological disorder is an important clinical finding also in patients with inv dup(15) syndrome. We report the first data of a systematic endocrinological study on inv dup( 15) syndrome which suggest that endocrine investigation in these patients i s both warranted and useful. Moreover, our observations confirm that a kary otype analysis in patients in whom precocious puberty is associated with me ntal retardation is mandatory.