title: Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report.
abstract: The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit at six days of age because of ambiguous genitalia. The karyotype in this case was 47,XXX, an unexpected finding. Diagnosis of 47,XXX individuals remains difficult because specific clinical criteria used to identify this condition are not available. Congenital adrenal hyperplasia has not been previously reported in patients with triple-X syndrome.
authors.affiliation: Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey.
authors.forename: Selim
authors.initials: S
authors.lastname: Kurtoğlu
authors.forename: M Emre
authors.initials: ME
authors.lastname: Atabek
authors.forename: Mustafa
authors.initials: M
authors.lastname: Akçakuş
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Ozkul
authors.forename: Cetin
authors.initials: C
authors.lastname: Saatçi
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications*; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D012729:Sex Chromosome Aberrations; D014314:Trisomy