title: Clinical data and parenthood of 63 infertile and Y-microdeleted men.
abstract: 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.
authors.affiliation: Assistance Publique - Hôpitaux de Paris, Paris, France. catherine.patrat@cch.aphp.fr
authors.forename: Catherine
authors.initials: C
authors.lastname: Patrat
authors.forename: Thierry
authors.initials: T
authors.lastname: Bienvenu
authors.forename: Laurent
authors.initials: L
authors.lastname: Janny
authors.forename: Anne-Karen
authors.initials: AK
authors.lastname: Faure
authors.forename: Patricia
authors.initials: P
authors.lastname: Fauque
authors.forename: Isabelle
authors.initials: I
authors.lastname: Aknin-Seifer
authors.forename: Céline
authors.initials: C
authors.lastname: Davy
authors.forename: Nicolas
authors.initials: N
authors.lastname: Thiounn
authors.forename: Pierre
authors.initials: P
authors.lastname: Jouannet
authors.forename: Rachel
authors.initials: R
authors.lastname: Lévy
mesh_terms: 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