Primary ovarian insufficiency in woman with normal karyotype 46XX and double satellites on the short arm of chromosome 15 (15pss)

A 31-year-old woman with oligomenorrhea and primary infertility consulted for evaluation. A clinical investigation, sonographic imaging of the reproductive organs, and an assessment of endogenous hormone production were performed. During the initial visit, the ultrasound identified a "pseudogestational sac" (i.e. fluid [blood or secretions] in the uterine cavity Pregnancy was excluded by serum beta-HCG assessment, and after 3 weeks, spontaneous menstruation occurred. Serum follicle-stimulating hormone, AMH, and inhibin B levels confirmed premature ovarian insufficiency (POI). High-resolution chromosomal evaluation identified normal 46XX karyotype with double satellites on chromosome 15 (46XX, 15 pss). Two months later, our patient presented with typical symptoms of hypoestrogenism: hot flushes, night sweats, and dyspareunia. Chromosome 15 with double satellites was not considered to be clinically significant. No cases of POI in women with karyotype 46XX 15pss have been reported. By reporting a case of POI in an infertile woman with double satellites on the short arm of chromosome 15 (15pss), we consider that autosomal chromosomes polymorphism may have clinical significance, and we recommend that the genetic cause of POI be investigated more seriously. © 2015 © 2015 Taylor & Francis.

Авторы
Редакторы
-
Издательство
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Номер выпуска
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Язык
Английский
Страницы
83-85
Статус
Опубликовано
Подразделение
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Номер
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Том
31
Год
2015
Организации
  • 1 Department of Obstetrics, Gynecology and Reproductive Medicine, Faculty of Postgraduate Education for Medical Specialists, Peoples Friendship University of Russia, Moscow, Russian Federation
  • 2 Department of Obstetrics and Gynecology, Institute of Medicine, Peoples Friendship University of Russia, Moscow, Russian Federation
Ключевые слова
Autosomal chromosomal polymorphism; chromosome 15 with double satellites oligomenorrhea; infertility; premature ovarian failure; premature ovarian insufficiency (POI); pseudogestational sac; secondary amenorrhea
Дата создания
19.10.2018
Дата изменения
19.10.2018
Постоянная ссылка
https://repository.rudn.ru/ru/records/article/record/4632/