J Genet Med.  2008 Dec;5(2):139-144.

Pericentric Inversion of the X Chromosome in a Male with Azoospermia and in the Family of a Pregnant Female Carrier

• Lee BY
• Ryu HM
• Lee MH
• Park JY
• Kim JW
• Lee JS
• Kim HO
• Kim MH
• Park SY

Abstract

We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year- old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of the pregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

Keyword

Pericentric inversion of X chromosome; Azoospermia; Prenatal diagnosis

MeSH Terms

Adult
Azoospermia
Biopsy
Cytogenetics
Estradiol
Fathers
Female
Fetus
Humans
Incidence
Karyotype
Lifting
Male
Maternal Age
Phenotype
Pregnancy
Pregnant Women
Prenatal Diagnosis
Prolactin
Siblings
Spermatocytes
Spermatozoa
Testis
Testosterone
X Chromosome
Estradiol
Prolactin
Testosterone