July 13th, 2020

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Spontaneous Pregnancy Fathered by a Chinese Man with Non-Mosaic Klinefelter Syndrome: A Case Report
Authors:  Ying Ou, M.M., Xiao-ping Yang, M.M., Song Quan, M.D., and Yong-tong Zhu, M.D.
BACKGROUND: Spontaneous pregnancy resulting from a Klinefelter syndrome father is rare; no successful fertile case of non-mosaic Klinefelter syndrome has been reported in China until now.

CASE: A patient with previously unknown non-mosaic Klinefelter syndrome who had fathered a child with a previous partner presented for evaluation of infertility, including physical examination, semen analysis, endocrinological evaluation, genetic analysis, and intracytoplasmic sperm injection (ICSI). Semen analysis confirmed extremely severe oligozoospermia or cryptozoospermia. ICSI using ejaculated spermatozoa was performed; 7 oocytes were retrieved, 6 of which were matured. Five oocytes were fertilized, 4 of which were normal. Two developed to top quality embryos, which were transferred.

CONCLUSION: This is the first fertile case of non-mosaic Klinefelter syndrome in China reported in the literature.
Keywords:  47,XXY, XXY syndrome, fertility, intracytoplasmic sperm injection, Klinefelter syndrome, male, male infertility, microdissection testicular sperm extraction, non-mosaic Klinefelter syndrome, non-obstructive azoospermia, paternity, sperm count, sperm re- trieval, testicular sperm aspiration, testicular sperm extraction, testicular sperm retrieval, testosterone
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