title: Sex chromosome pentasomy 49,XXXXY connected with hypothyroidism. Case report.
abstract: 49,XXXXY syndrome is a very rare sex chromosomes polysomy, which is always connected with dysmorphic appearance, hypergonadothrophic hypogonadism and mental retardation. In this report we describe the clinical, biochemical, hormonal, radiological and developmental status of the patient with 49,XXXXY syndrome, referred to our department at the age of 12 months because of underdeveloped external genitalia. Subclinical hypothyroidism and severe scoliosis could further disturb his development.
authors.affiliation: Department of Endocrinology and Diabetology for Children and Adolescents, Wroclaw Medical University, Wroclaw, Poland. wikierab@wp.pl
authors.forename: Beata
authors.initials: B
authors.lastname: Wikiera
authors.forename: Ewa
authors.initials: E
authors.lastname: Głab
authors.forename: Ryszard
authors.initials: R
authors.lastname: Slezak
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Wójcik
authors.forename: Anna
authors.initials: A
authors.lastname: Noczyńska
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007037:Hypothyroidism / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012600:Scoliosis / Q000235:genetics*; D025064:Sex Chromosome Disorders / Q000235:genetics*