Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report
Background. Premature ovarian insufficiency (POI) in the pediatric age group is most commonly related to X chromosome abnormalities such as Turner syndrome. Autosomal chromosome microdeletions in ovarian failure are relatively rare. The present study identified new autosomal deletions in thre...
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Hacettepe University Institute of Child Health
2022-08-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/202 |
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| author | Ke Yuan Minfei He Yanlan Fang Jianfang Zhu Li Liang Chunlin Wang |
| author_facet | Ke Yuan Minfei He Yanlan Fang Jianfang Zhu Li Liang Chunlin Wang |
| author_sort | Ke Yuan |
| collection | DOAJ |
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Background. Premature ovarian insufficiency (POI) in the pediatric age group is most commonly related to X chromosome abnormalities such as Turner syndrome. Autosomal chromosome microdeletions in ovarian failure are relatively rare. The present study identified new autosomal deletions in three girls with POI.
Case. We present three adolescent girls aged 14-15 years who had not attained menarche. Upon physical examination, there was a lack of breast tissue and no prominent secondary sexual characteristics. Clinical evaluation, hormonal tests, abdominal ultrasonography, and chromosome karyotyping were performed. Chromosome microarray analysis (CMA) was also performed to detect DNA copy number changes. Luteinizing hormone level was significantly increased, while follicular stimulating hormone level was > 25 IU/L with low estradiol levels. Autosomal deletions were detected in all three cases by CMA. The first patient had 0.454 Mb deletion on 15q25.2, the second patient had 1.337 Mb deletion on 19p13.3, and the third patient had 0.163 Mb deletion on 16p11.2.
Conclusions. POI is rare in children and is most commonly associated with X chromosome abnormalities. However, normal karyotype does not exclude the presence of chromosomal abnormality. CMA should be considered in cases with POI to detect microdeletions in autosomal chromosomes.
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| format | Article |
| id | doaj-art-1f2755cef8be44d79ed4465722e15ccd |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2022-08-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-1f2755cef8be44d79ed4465722e15ccd2025-08-20T02:55:21ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212022-08-0164410.24953/turkjped.2021.749Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case reportKe Yuan0Minfei He1Yanlan Fang2Jianfang Zhu3Li Liang4Chunlin Wang5Department of Pediatrics, The First Affiliated Hospital, College of Medience, Zhejiang University, China.Department of Pediatrics, The First Affiliated Hospital, College of Medience, Zhejiang University, China.Department of Pediatrics, The First Affiliated Hospital, College of Medience, Zhejiang University, China.Department of Pediatrics, The First Affiliated Hospital, College of Medience, Zhejiang University, China.Department of Pediatrics, The First Affiliated Hospital, College of Medience, Zhejiang University, China.Department of Pediatrics, The First Affiliated Hospital, College of Medience, Zhejiang University, China. Background. Premature ovarian insufficiency (POI) in the pediatric age group is most commonly related to X chromosome abnormalities such as Turner syndrome. Autosomal chromosome microdeletions in ovarian failure are relatively rare. The present study identified new autosomal deletions in three girls with POI. Case. We present three adolescent girls aged 14-15 years who had not attained menarche. Upon physical examination, there was a lack of breast tissue and no prominent secondary sexual characteristics. Clinical evaluation, hormonal tests, abdominal ultrasonography, and chromosome karyotyping were performed. Chromosome microarray analysis (CMA) was also performed to detect DNA copy number changes. Luteinizing hormone level was significantly increased, while follicular stimulating hormone level was > 25 IU/L with low estradiol levels. Autosomal deletions were detected in all three cases by CMA. The first patient had 0.454 Mb deletion on 15q25.2, the second patient had 1.337 Mb deletion on 19p13.3, and the third patient had 0.163 Mb deletion on 16p11.2. Conclusions. POI is rare in children and is most commonly associated with X chromosome abnormalities. However, normal karyotype does not exclude the presence of chromosomal abnormality. CMA should be considered in cases with POI to detect microdeletions in autosomal chromosomes. https://turkjpediatr.org/article/view/202autosomalchromosomal abnormalitieschromosome karyotypechromosome microarray analysispremature ovarian insufficiency |
| spellingShingle | Ke Yuan Minfei He Yanlan Fang Jianfang Zhu Li Liang Chunlin Wang Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report The Turkish Journal of Pediatrics autosomal chromosomal abnormalities chromosome karyotype chromosome microarray analysis premature ovarian insufficiency |
| title | Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report |
| title_full | Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report |
| title_fullStr | Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report |
| title_full_unstemmed | Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report |
| title_short | Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report |
| title_sort | autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency a case report |
| topic | autosomal chromosomal abnormalities chromosome karyotype chromosome microarray analysis premature ovarian insufficiency |
| url | https://turkjpediatr.org/article/view/202 |
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