title: Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report.
abstract: BACKGROUND
  Premature ovarian failure is defined as the cessation of ovarian activity before the age of 40 years. It is biochemically characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (luteinizing hormone and follicle-stimulating hormone).
  
  
  METHODS
  Our patient, a 22-year-old Caucasian woman under evaluation for infertility, had experienced secondary amenorrhea from the age of 18. No positive family history was noted regarding premature menopause. An examination of our patient's karyotype showed the presence of a reciprocal translocation, apparently balanced, which had the X chromosome long arm (q13) and the 14 chromosome short arm (p12) with consequent karyotype: 46, X, t(X; 14)(q13;p12).
  
  
  CONCLUSIONS
  Our study has underlined that karyotyping is one of the fundamental investigations in the evaluation of amenorrhea. It highlighted a genetic etiology, in the form of a chromosomal abnormality, as the causal factor in amenorrhea.
authors.affiliation: Unit of Cytogenetic and Molecular Genetics, Madonna delle Grazie Hospital, Matera, 75100, Italy. ducati98@libero.it.
authors.forename: Domenico
authors.initials: D
authors.lastname: Dell'edera
authors.forename: Andrea
authors.initials: A
authors.lastname: Tinelli
authors.forename: Oronzo
authors.initials: O
authors.lastname: Capozzi
authors.forename: Annunziata Anna
authors.initials: AA
authors.lastname: Epifania
authors.forename: Antonio
authors.initials: A
authors.lastname: Malvasi
authors.forename: Dominga
authors.initials: D
authors.lastname: Lofrese
authors.forename: Elena
authors.initials: E
authors.lastname: Pacella
authors.forename: Giusi Natalia
authors.initials: GN
authors.lastname: Milazzo
authors.forename: Eleonora
authors.initials: E
authors.lastname: Mazzone
authors.forename: Manuela
authors.initials: M
authors.lastname: Leo
authors.forename: Mariano
authors.initials: M
authors.lastname: Rocchi