Abstract
49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected
individuals present with hypergonadotropic hypogonadism, short or long stature, and
skeletal malformations. Psychological, endocrinological, and orthopaedic disorders
constitute the major problems in the clinical follow-up. We report a family with two
rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially
be in mind in the evaluation of patients with micropenis, mental retardation, and
hypergonadotropic hypogonadism. Management mandates a multidisciplinary approach with
pediatric endocrinology, pediatric surgery, orthopaedics, psychiatry, and clinical
genetic evaluations. To our knowledge, our cases are the first to report the sibling
patients with 49,XXXXY and 45,X.
Keywords
49,XXXXY - 45,X - meiotic segregation
