Korean J Urol.  2013 Feb;54(2):111-116.

Detection of Y Chromosome Microdeletion is Valuable in the Treatment of Patients With Nonobstructive Azoospermia and Oligoasthenoteratozoospermia: Sperm Retrieval Rate and Birth Rate

• Choi DK
• Gong IH
• Hwang JH
• Oh JJ
• Hong JY

Abstract

PURPOSE
We evaluated clinical characteristics, sperm retrieval rates, and birth rates in a relatively large number of infertile patients with Y chromosome microdeletions.
MATERIALS AND METHODS
We retrospectively reviewed clinical data from 213 patients with nonobstructive azoospermia (NOA) and 76 patients with oligoasthenoteratozoospermia (OATS) who were tested for Y chromosome microdeletion from March 2004 to June 2011.
RESULTS
Of the 289 patients, 110 patients presented with Y chromosome microdeletion and 179 patients presented with no microdeletion. Among the patients with Y chromosome microdeletions, 83/110 (75.4%) were NOA patients and 27/110 (24.5%) were OATS patients. After subdividing the patients with Y chromosome microdeletion, 29 had azoospermia factor (AZF)b-c microdeletion and 81 had AZFc microdeletion. The sperm retrieval rate was similar between patients with Y chromosome microdeletion and those with no microdeletion (26.6% vs. 25.6%, p=0.298) after multiple testicular sperm extraction (TESE). Excluding 53 patients who did not undergo TESE, 30 patients were analyzed. All of the 9 men with AZFb-c microdeletion had a complete absence of sperm despite multiple TESE. However, multiple TESE was successful for 9 of 21 patients with only AZFc microdeletion (p=0.041). Twenty patients with Y chromosome microdeletion gave birth.
CONCLUSIONS
In NOA and OATS patients, no significant difference in the sperm retrieval rate was shown between patients with Y chromosome microdeletion and those with no microdeletion. Patients with short Y chromosome microdeletion such as AZFc microdeletion have better prognoses for sperm retrieval and an increased chance of conception than do patients with larger microdeletions such as AZFb-c microdeletion.

Keyword

Assisted reproductive techniques; Azoospermia; Male infertility; Sperm retrieval; Y chromosome

MeSH Terms

Avena
Azoospermia
Birth Rate
Chromosome Deletion
Chromosomes, Human, Y
Fertilization
Humans
Infertility, Male
Male
Parturition
Prognosis
Reproductive Techniques, Assisted
Retrospective Studies
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development
Sperm Retrieval
Spermatozoa
Y Chromosome
Chromosome Deletion
Chromosomes, Human, Y
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development

Figure

• 

  FIG. 1 Schematic depiction the location of azoospermia factor (AZF) regions a, b, and c in the Y chromosome. SRY, sex-determining region of the Y chromosome.

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