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Purpose <p>Reporting a rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis (CGD) after receiving hormone replacement therapy (HRT), oocyte donation, and overcoming multiple pregnancy complications.</p> Methods <p>An infertile female presenting with primary amenorrhea was recruited. Comprehensive genetic evaluation including <i>SRY</i> and <i>AZF</i> gene testing, chromosome karyotyping, fluorescence in situ hybridization (FISH), CNV-seq, and whole-exome sequencing (WES) was performed. This patient was treated with HRT and oocyte donation and received appropriate treatment during pregnancy.</p> Results <p>The patient showed a hypoplastic uterus and absent bilateral ovaries via ultrasound detection. She was identified to be a 45,X/46,XY mosaicism through CNV-seq analysis of peripheral blood, saliva, urine, and buccal cells. And further gonadal pathology further confirmed a diagnosis of CGD. Following successful management of multiple pregnancy complications, she delivered a healthy full-term infant.</p> Conclusions <p>This is the second case around the world and the first case in China of 45,X/46,XY mosaic female with CGD who experienced a successful pregnancy via occytes donation.And we provided a detailed examination and treatment process for a series of complications in this case, especially the management of threatened miscarriages and preterm labour.</p>

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A rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis after receiving oocyte donation and overcoming multiple pregnancy complications

  • 期刊论文

  • 发表日期：

    2025年2月4日

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  • Yingliu Luo,
  • Xi Liao,
  • Juan Wen,
  • Weijuan Wu,
  • Guizhi Tang,
  • Huimin Zhu,
  • Yulin Jiang,
  • Desheng Liang,
  • Zhuo Li,
  • Lingqian Wu

摘要

Purpose

Reporting a rare viable delivery of a 45,X/46,XY mosaicism female with complete gonadal dysgenesis (CGD) after receiving hormone replacement therapy (HRT), oocyte donation, and overcoming multiple pregnancy complications.

Methods

An infertile female presenting with primary amenorrhea was recruited. Comprehensive genetic evaluation including SRY and AZF gene testing, chromosome karyotyping, fluorescence in situ hybridization (FISH), CNV-seq, and whole-exome sequencing (WES) was performed. This patient was treated with HRT and oocyte donation and received appropriate treatment during pregnancy.

Results

The patient showed a hypoplastic uterus and absent bilateral ovaries via ultrasound detection. She was identified to be a 45,X/46,XY mosaicism through CNV-seq analysis of peripheral blood, saliva, urine, and buccal cells. And further gonadal pathology further confirmed a diagnosis of CGD. Following successful management of multiple pregnancy complications, she delivered a healthy full-term infant.

Conclusions

This is the second case around the world and the first case in China of 45,X/46,XY mosaic female with CGD who experienced a successful pregnancy via occytes donation.And we provided a detailed examination and treatment process for a series of complications in this case, especially the management of threatened miscarriages and preterm labour.