Clinical data and parenthood of 63 infertile and Y-microdeleted men

Catherine Patrat, Thierry Bienvenu, Laurent Janny, Anne-Karen Faure, Patricia Fauque, Isabelle Aknin-Seifer, Céline Davy, Nicolas Thiounn, Pierre Jouannet, Rachel Lévy
Fertility and Sterility 2010, 93 (3): 822-32

OBJECTIVE: To collect follow-up data for infertile men with Y microdeletion.

DESIGN: Retrospective, observational survey.

SETTING: Multicenter IVF units associated with genetics laboratories.

PATIENT(S): Sixty-three patients with Y microdeletion.

INTERVENTION(S): Karyotype analysis, Y microdeletion screening, and assisted reproductive technology.

MAIN OUTCOME MEASURES: Medical history, karyotype, nature of the AZF deletion, semen parameters, testis biopsy results, choice of assisted reproductive technology, and results of intracytoplasmic sperm injection (ICSI).

RESULTS: Abnormal karyotypes were found in 8 men (12.7%), who were azoospermic except 1. Of these 8 men, 5 presented a combined AZFb+c deletion, and 3 had a deletion in AZFc only. Most men (39 of 63) were azoospermic, 3 were cryptoazoospermic, and 19 had extreme oligozoospermia (sperm concentration </=1.10(6)/mL). Sperm concentration above 1.10(6)/mL was found for 2 men (3.1%). A testis biopsy was performed in 27 azoospermic men, resulting in positive sperm extraction in 6 cases. To date, 42 ICSI cycles with either testicular (n = 5) or ejaculated spermatozoa (n = 37) have been carried out in 23 couples with male partners with AZFc deletion. Eighteen clinical pregnancies were obtained, leading to the birth of 14 babies. Donor insemination had been chosen by 28 couples, leading to the birth of 9 children.

CONCLUSION: Karyotype analysis should be systematically performed in Y microdeleted men. Intracytoplasmic sperm injection can be offered to half of AZFc-deleted patients, providing real opportunities to have a child.

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