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Luo Y, Liao X, Wen J, Wu W, Tang G, Zhu H, Jiang Y, Liang D, Li Z, Wu L. 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. J Assist Reprod Genet 2025; 42:1215-1222. [PMID: 39903408 PMCID: PMC12055692 DOI: 10.1007/s10815-025-03394-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/11/2024] [Accepted: 01/08/2025] [Indexed: 02/06/2025] Open
Abstract
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.
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Affiliation(s)
- Yingliu Luo
- Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, Hunan, China
| | - Xi Liao
- Assisted Reproduction Center, Beijing Perfect Family Hospital, Beijing, 100034, China
| | - Juan Wen
- Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, Hunan, China
| | - Weijuan Wu
- Department of Medical Genetics, Hunan Jiahui Genetics Hospital, Changsha, 410078, Hunan, China
| | - Guizhi Tang
- Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, Hunan, China
| | - Huimin Zhu
- Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, Hunan, China
| | - Yulin Jiang
- National Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China
| | - Desheng Liang
- Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, Hunan, China
- Department of Medical Genetics, Hunan Jiahui Genetics Hospital, Changsha, 410078, Hunan, China
| | - Zhuo Li
- Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, Hunan, China.
- Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, Department of Reproductive Medicine, Hainan Provincial Clinical Research Center for Thalassemia, Key Laboratory of Reproductive Health Diseases Research and Translation (Hainan Medical University), Ministry of Education, the First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, 571101, Hainan, China.
| | - Lingqian Wu
- Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, Hunan, China.
- Department of Medical Genetics, Hunan Jiahui Genetics Hospital, Changsha, 410078, Hunan, China.
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Wu YH, Sun KN, Bao H, Chen YJ. SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature. World J Clin Cases 2020; 8:6380-6388. [PMID: 33392321 PMCID: PMC7760426 DOI: 10.12998/wjcc.v8.i24.6380] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/06/2020] [Revised: 09/28/2020] [Accepted: 10/13/2020] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND 45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range of phenotypes in both males and females, from normal individuals with different degrees of genital ambiguity to those who show signs of Turner’s syndrome. More rarely, cases of 45,X/46,XY mosaicism with a normal-appearing male phenotype are not found until a chromosome test is performed to investigate the cause of male infertility.
CASE SUMMARY In this study, a 29-year-old male patient with complete azoospermia is reported. Chromosomal analyses of his lymphocytes revealed the karyotype 45,X[93%]/46,X,+mar(Y)[7%]. In addition, Y chromosome-specific markers, such as SRY, ZFY, AZFa, AZFb and AZFc, were not observed in his blood DNA according to multiplex polymerase chain reaction test. A literature review identified several 45,X/46,XY cases with a normal-appearing male phenotype, most of whom were diagnosed during infertility investigation. However, the present case is the first SRY-negative 45,X/46,XY male case diagnosed during a premarital medical examination.
CONCLUSION This finding further suggests that sex determination is a complex process regulated by multiple genetic and environmental factors.
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Affiliation(s)
- Yan-Hua Wu
- Department of Laboratory Medicine, The 960th Hospital of The PLA Joint Logistics Support Force, Jinan 250031, Shandong Province, China
| | - Ke-Na Sun
- Department of Medical Laboratory, Weifang Medical University, Weifang 261053, Shandong Province, China
| | - Hui Bao
- Department of Laboratory Medicine, The 960th Hospital of The PLA Joint Logistics Support Force, Jinan 250031, Shandong Province, China
| | - Ying-Jian Chen
- Department of Laboratory Medicine, The 960th Hospital of The PLA Joint Logistics Support Force, Jinan 250031, Shandong Province, China
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