Unravelling the Impact of an Additional Sex Chromosome in an Adult Female
Women with Triple X syndrome (TXS) appear to be at increased risk for decreased ovarian reserve; however, available data are limited. We present an asyndromic adult female with features of recurrent pregnancy loss and decreased ovarian reserve detected with mosaic Triple X syndrome (TXS). The patien...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-04-01
|
| Series: | Journal of Human Reproductive Sciences |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/jhrs.jhrs_49_23 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1823860994922774528 |
|---|---|
| author | Sigin George Vikas Dagar Barun Kumar Chakrabarty N. Nagaraja |
| author_facet | Sigin George Vikas Dagar Barun Kumar Chakrabarty N. Nagaraja |
| author_sort | Sigin George |
| collection | DOAJ |
| description | Women with Triple X syndrome (TXS) appear to be at increased risk for decreased ovarian reserve; however, available data are limited. We present an asyndromic adult female with features of recurrent pregnancy loss and decreased ovarian reserve detected with mosaic Triple X syndrome (TXS). The patient was initially evaluated by a low-cost peripheral blood (PB) conventional karyotyping using standard cytogenetic protocols. Interphase fluorescence in situ hybridisation was performed to confirm the diagnosis. Chromosomal microarray, which is a more expensive test, substantiated the presence of additional X chromosomes but failed to detect the presence of low level of mosaicism. Our case study emphasised the recommendation of performing a strategy-based cost-effective cytogenetic evaluation of all cases of decreased ovarian reserve or low anti-Müllerian hormone levels in a resource-constrained setting. It also highlighted the need for additional research to understand the natural history of ovarian function in TXS affected women throughout their lifespans. |
| format | Article |
| id | doaj-art-dc710adb0fe64778920f2142416b8a0f |
| institution | Kabale University |
| issn | 0974-1208 1998-4766 |
| language | English |
| publishDate | 2023-04-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Human Reproductive Sciences |
| spelling | doaj-art-dc710adb0fe64778920f2142416b8a0f2025-02-10T07:44:45ZengWolters Kluwer Medknow PublicationsJournal of Human Reproductive Sciences0974-12081998-47662023-04-0116216616910.4103/jhrs.jhrs_49_23Unravelling the Impact of an Additional Sex Chromosome in an Adult FemaleSigin GeorgeVikas DagarBarun Kumar ChakrabartyN. NagarajaWomen with Triple X syndrome (TXS) appear to be at increased risk for decreased ovarian reserve; however, available data are limited. We present an asyndromic adult female with features of recurrent pregnancy loss and decreased ovarian reserve detected with mosaic Triple X syndrome (TXS). The patient was initially evaluated by a low-cost peripheral blood (PB) conventional karyotyping using standard cytogenetic protocols. Interphase fluorescence in situ hybridisation was performed to confirm the diagnosis. Chromosomal microarray, which is a more expensive test, substantiated the presence of additional X chromosomes but failed to detect the presence of low level of mosaicism. Our case study emphasised the recommendation of performing a strategy-based cost-effective cytogenetic evaluation of all cases of decreased ovarian reserve or low anti-Müllerian hormone levels in a resource-constrained setting. It also highlighted the need for additional research to understand the natural history of ovarian function in TXS affected women throughout their lifespans.https://journals.lww.com/10.4103/jhrs.jhrs_49_23cytogenetic analysisdecreased ovarian reservemosaicismtriple x syndrome |
| spellingShingle | Sigin George Vikas Dagar Barun Kumar Chakrabarty N. Nagaraja Unravelling the Impact of an Additional Sex Chromosome in an Adult Female Journal of Human Reproductive Sciences cytogenetic analysis decreased ovarian reserve mosaicism triple x syndrome |
| title | Unravelling the Impact of an Additional Sex Chromosome in an Adult Female |
| title_full | Unravelling the Impact of an Additional Sex Chromosome in an Adult Female |
| title_fullStr | Unravelling the Impact of an Additional Sex Chromosome in an Adult Female |
| title_full_unstemmed | Unravelling the Impact of an Additional Sex Chromosome in an Adult Female |
| title_short | Unravelling the Impact of an Additional Sex Chromosome in an Adult Female |
| title_sort | unravelling the impact of an additional sex chromosome in an adult female |
| topic | cytogenetic analysis decreased ovarian reserve mosaicism triple x syndrome |
| url | https://journals.lww.com/10.4103/jhrs.jhrs_49_23 |
| work_keys_str_mv | AT sigingeorge unravellingtheimpactofanadditionalsexchromosomeinanadultfemale AT vikasdagar unravellingtheimpactofanadditionalsexchromosomeinanadultfemale AT barunkumarchakrabarty unravellingtheimpactofanadditionalsexchromosomeinanadultfemale AT nnagaraja unravellingtheimpactofanadditionalsexchromosomeinanadultfemale |