Successful surgical sperm retrieval from a patient with 45,X/46,XY mosaicism followed by in vitro fertilization pregnancy: A case report.
Successful surgical sperm retrieval from a patient with 45,X/46,XY mosaicism followed by in vitro fertilization pregnancy: A case report.
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成功通过手术从 45,X/46,XY 嵌合体患者中取出精子并进行体外受精妊娠
DOI：
10.1097/md.0000000000022223
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发表时间：
2020-10-02
期刊：
影响因子：
1.6
通讯作者：
Ma Y
中科院分区：
文献类型：
--
作者：
Zhang Y;Liu Z;Ou J;Zhang LX;Lu WY;Li Q;Ma Y
摘要理论基础：混合性性腺发育不全是一种罕见的性发育障碍，通常含有嵌合型45，X/46，XY核型。患者关注：我们报告了一例42岁男性患者，不孕不育6年，性交时不能射精。诊断：体检证实外生殖器为男性。此例患者的右侧睾丸被切除，左侧睾丸内有钙化。激素测定促卵泡激素水平为20.14 IU/L(正常范围：1.2 7~19.26 IU/L)。性别决定区Y未发现缺失或突变。H&E染色显示生精小管发育不良。外周血和睾丸组织的核型分别为45，X/46，XY和45，X/47，XYY/46，XY。根据这些结果，患者被诊断为45，X/46，XY或45，X/47，XYY/46，XY嵌合体和性腺发育不全。干预：采用体外受精和胚胎移植技术帮助其妻子实现妊娠。结果：一名正常男婴在妊娠36周出生，核型为46，XY。教训：我们报告了一例罕见的血细胞核型为45，X/46，XY，睾丸组织为45，X/47，XYY/46，XY的病例。体外受精和胚胎移植技术可以帮助实现怀孕。
Abstract Rationale: Mixed gonadal dysgenesis is a rare disorder of sex development, and typically contains a mosaic 45,X/46,XY karyotype. Patient concerns: We reported here a case of a 42-year-old man with infertility for 6 years and inability to ejaculate during intercourse. Diagnosis: Physical examination confirmed that the external genitalia was male. The right testis of this patient was resected and the left testis had intrascrotal calcification. Hormone test showed that the level of follicle-stimulating hormone was 20.14 IU/L (normal range, 1.27–19.26 IU/L). No deletion or mutation was found on the sex-determining region Y. H&E staining revealed seminiferous tubule dysgenesis. The karyotyping in peripheral blood and testicular tissue was 45,X/46,XY and 45,X/47,XYY/46,XY, respectively. Based on these results, the patient was diagnosed with 45,X/46,XY or 45,X/47,XYY/46,XY mosaicism and gonadal dysgenesis. Interventions: In vitro fertilization and embryo transfer technology were used to help his wife to achieve pregnancy. Outcomes: A normal baby boy was born at 36 weeks of gestation with a karyotype 46, XY. Lessons: We reported a rare case of a karyotype 45,X/46,XY in blood cells and 45,X/47, XYY/46,XY in testicular tissue. In vitro fertilization and embryo transfer technology can help to achieve pregnancy.