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.
Highlights
Premature ovarian failure is defined as the cessation of ovarian activity before the age of 40 years
Our study has underlined that karyotyping is one of the fundamental investigations in the evaluation of amenorrhea
Premature ovarian failure (POF) is considered idiopathic [3] in two thirds of cases, with the patient having a normal karyotype; in the remaining third of cases, it is secondary to genetic anomalies [4], autoimmune pathologies [5], pharmacological therapies [6], radiotherapy, or surgical oophorectomy
Summary
Premature ovarian failure (POF) is defined by the cessation of ovarian activity before the age of 40 years [1] This condition is biochemically characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (luteinizing hormone (LH) and follicle-stimulating hormone (FSH)) [2]. Her thyroid-stimulating hormone, free tri-iodothyronine and free thyroxin hormone levels were normal, while the levels of anti-thyroid peroxidase antibodies and anti-thyroglobulin antibodies were very high. It was necessary, at this point, to conclude the diagnostics by studying her karyotype. Our patient did not present clinical manifestations associated with X-linked recessive diseases
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