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Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report

Domenico Dell’Edera1*, Andrea Tinelli2, Oronzo Capozzi3, Annunziata Anna Epifania4, Antonio Malvasi5, Dominga Lofrese1, Elena Pacella6, Giusi Natalia Milazzo7, Eleonora Mazzone1, Manuela Leo1 and Mariano Rocchi3

Author Affiliations

1 Unit of Cytogenetic and Molecular Genetics, Madonna delle Grazie Hospital, Matera, 75100, Italy

2 Obstetrics and Gynecology Department, V. Fazzi Hospital, Lecce, Italy

3 Department of Biology, University of Bari, Bari, Italy

4 Unit of Clinical Chemistry, Madonna delle Grazie Hospital, Matera, Italy

5 Obstetrics and Gynecology Department, Santa Maria Hospital, Bari, Italy

6 Department of Ophthalmology, Sapienza University, Rome, Italy

7 S'Andrea Hosptital, Sapienza University, Rome, Italy

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Journal of Medical Case Reports 2012, 6:368  doi:10.1186/1752-1947-6-368

Published: 29 October 2012



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).

Case presentation

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).


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.