title: Mosaic ring X chromosome in a case of secondary amenorrhea.
abstract: OBJECTIVE
  To report an unusual case of secondary amenorrhea in a 17-year-old adolescent with normal sexual development who proved to have a karyotype 46,XX/46,X,+ringX/47,XX,+ringX.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Hospital, tertiary level of clinical endocrine care.
  
  
  METHODS
  A 17-year-old patient with secondary amenorrhea and normal sexual characteristics with no stigmata of Turner syndrome.
  
  
  METHODS
  Clinical history, hormonal markers, cytogenetic analysis.
  
  
  METHODS
  Cytogenetic analysis by G-banding technique, multicolor fluorescence in situ hybridization, and multicolor banding analysis on peripheral blood lymphocytes.
  
  
  RESULTS
  The presence of mosaicism in 12% of metaphases indicating a ring X chromosome with one or two normal X chromosomes, forming a karyotype 46,XX/46,X, +ringX/47,XX,+ringX.
  
  
  CONCLUSIONS
  Our findings indicate the necessity for cytogenetic studies in certain cases of amenorrhea. This is a very rare karyotype in patients with secondary amenorrhea.
authors.affiliation: Unit of Endocrinology, Theageneion Hospital, Thessaloniki, Greece. alexri@otenet.gr
authors.forename: Alexandra
authors.initials: A
authors.lastname: Chrisoulidou
authors.forename: Helen
authors.initials: H
authors.lastname: Bili
authors.forename: Eleni
authors.initials: E
authors.lastname: Georgiou
authors.forename: Sotiria
authors.initials: S
authors.lastname: Mavroudi
authors.forename: Anna S
authors.initials: AS
authors.lastname: Lazaridou
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000209:etiology* / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D012303:Ring Chromosomes