Clinical data and parenthood of 63 infertile and Y-microdeleted men.
OBJECTIVE
To collect follow-up data for infertile men with Y microdeletion.


METHODS
Retrospective, observational survey.


METHODS
Multicenter IVF units associated with genetics laboratories.


METHODS
Sixty-three patients with Y microdeletion.


METHODS
Karyotype analysis, Y microdeletion screening, and assisted reproductive technology.


METHODS
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.


CONCLUSIONS
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.
Patrat
Catherine
C
Assistance Publique - Hôpitaux de Paris, Paris, France. catherine.patrat@cch.aphp.fr
Bienvenu
Thierry
T
Janny
Laurent
L
Faure
Anne-Karen
AK
Fauque
Patricia
P
Aknin-Seifer
Isabelle
I
Davy
Céline
C
Thiounn
Nicolas
N
Jouannet
Pierre
P
Lévy
Rachel
R
D000328:Adult; D001706:Biopsy; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D005602:France / Q000453:epidemiology; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D010290:Parents; D011247:Pregnancy; D011256:Pregnancy Outcome; D015995:Prevalence; D027724:Reproductive Techniques, Assisted; D012189:Retrospective Studies; D020554:Sperm Injections, Intracytoplasmic; D013094:Spermatozoa / Q000473:pathology / Q000502:physiology; D013737:Testis / Q000473:pathology