Introduction. 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). 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. © 2012 Dell'Edera et al.; licensee BioMed Central Ltd.

Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: A case report / Domenico, Dell'Edera; Andrea, Tinelli; Oronzo, Capozzi; Annunziata, Epifania; Antonio, Malvasi; Dominga, Lofrese; Pacella, Elena; Giusi, Milazzo; Eleonora, Mazzone; Manuela, Leo; Mariano, Rocchi. - In: JOURNAL OF MEDICAL CASE REPORTS. - ISSN 1752-1947. - STAMPA. - 6:1(2012), pp. 368-368. [10.1186/1752-1947-6-368]

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

PACELLA, Elena;
2012

Abstract

Introduction. 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). 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. © 2012 Dell'Edera et al.; licensee BioMed Central Ltd.
2012
premature ovarian chromosomal anomaly caucasian woman
01 Pubblicazione su rivista::01a Articolo in rivista
Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: A case report / Domenico, Dell'Edera; Andrea, Tinelli; Oronzo, Capozzi; Annunziata, Epifania; Antonio, Malvasi; Dominga, Lofrese; Pacella, Elena; Giusi, Milazzo; Eleonora, Mazzone; Manuela, Leo; Mariano, Rocchi. - In: JOURNAL OF MEDICAL CASE REPORTS. - ISSN 1752-1947. - STAMPA. - 6:1(2012), pp. 368-368. [10.1186/1752-1947-6-368]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/488833
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