A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency
Background: Premature ovarian insufficiency (POI) is defined as the onset of a menopausal state prior to 40 years of age. Of the various causes of POI, genetic abnormalities account for 10.8% of all cases, which can be categorized into either chromosomal or gene anomalies. Chromosomal abnormalities...
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| Main Authors: | , , , , |
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| Format: | Book |
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IMR Press,
2021-12-01T00:00:00Z.
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| Summary: | Background: Premature ovarian insufficiency (POI) is defined as the onset of a menopausal state prior to 40 years of age. Of the various causes of POI, genetic abnormalities account for 10.8% of all cases, which can be categorized into either chromosomal or gene anomalies. Chromosomal abnormalities of the isochromosome Xq [i(Xq)] type have been recognized as common causes of POI. Cases: A 16-year-old female presented with secondary amenorrhea that had persisted for one year. Her physical examination was unremarkable, including a height of 158 cm and the presence of secondary sexual characteristics. Her serum level of follicle-stimulating hormone was elevated (66 mIU/mL), whereas her estradiol and anti-Müllerian hormone levels were decreased (<10 pg/mL and 0.02 pg/mL, respectively). Conventional cytogenetic analyses of a peripheral blood sample showed the karyotype of 46,X,ider(X)(q28)i(X)(q10). Conclusions: We describe a novel chromosomal structural abnormality of the i(Xq) type that is associated with a diagnosis of POI. |
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| Item Description: | 0390-6663 10.31083/j.ceog4806230 |