title: Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.
abstract: BACKGROUND
  Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis.
  
  
  METHODS
  A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH.
  
  
  CONCLUSIONS
  Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications.
authors.affiliation: School of Health Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Białka
authors.affiliation: Department of Pediatrics and Pediatric Endocrinology, Medical University of Silesia, School of Medicine in Katowice, Katowice, Poland.
authors.forename: Aneta
authors.initials: A
authors.lastname: Gawlik
authors.affiliation: School of Health Sciences in Katowice, Medical University of Silesia, Katowice, Poland. Electronic address: cor111@poczta.onet.pl.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Drosdzol-Cop
authors.affiliation: School of Health Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Wilk
authors.affiliation: Department of Pediatrics and Pediatric Endocrinology, Medical University of Silesia, School of Medicine in Katowice, Katowice, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Małecka-Tendera
authors.affiliation: School of Health Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
authors.forename: Violetta
authors.initials: V
authors.lastname: Skrzypulec-Plinta
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000175:diagnosis*; D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics; D000013:Congenital Abnormalities / Q000175:diagnosis*; D057210:Delayed Diagnosis; D004967:Estrogens / Q000627:therapeutic use; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities*; D014424:Turner Syndrome / Q000175:diagnosis* / Q000188:drug therapy; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities; D055815:Young Adult
chemical_list: D004967:Estrogens
keywords: Gonadal dysgenesis; Mayer-Rokitansky-Küster-Hauser syndrome; Turner syndrome