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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-10-29

AUTHORS

Domenico Dell’Edera, Andrea Tinelli, Oronzo Capozzi, Annunziata Anna Epifania, Antonio Malvasi, Dominga Lofrese, Elena Pacella, Giusi Natalia Milazzo, Eleonora Mazzone, Manuela Leo, Mariano Rocchi

ABSTRACT

IntroductionPremature 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 presentationOur 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).ConclusionsOur 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. More... »

PAGES

368

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1752-1947-6-368

DOI

http://dx.doi.org/10.1186/1752-1947-6-368

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011649015

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23107510


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