Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism

Abstract

Chimerism, a rare human disorder, is assumed to be the result of an amalgamation of two separate zygotes in a single embryo. Studies have shown that the phenotypic spectrum of chimerism is variable and there is no definite genotype-phenotype correlation in patients with chimerism, therefore a majority of cases might remain undiagnosed. This study aims to investigate the possible mechanism of the chimerism in a 46,XX/46,XY infertile and phenotypically normal male, with 46,XX blood karyotype and normal spermatogenesis. We have used Interphase-FISH analysis to study the CEPX and CEPY regions on buccal and urine samples as well as molecular analysis of polymorphic short tandem repeats (STR) markers from 34 loci in order to discover the origin of 46,XX/46,XY. Analysis of X-linked and autosomal STR markers on blood, buccal tissue, urine, fibroblast and testis biopsy samples of the proband along with the blood sample of the patient's parents and siblings, showed divergent karyotypes in different tissues and tetragametic chimerism was diagnosed. K E Y W O R D Scongenital chimera, male infertility, short tandem repeats markers, tetragametic chimerism

Semen microbiota in normal and leukocytospermic males

“…Because the influence of leukocytospermia on azoospermia and oligospermia (sperm concentration <15 × 10 6 ml −1 ) is minimal, the primary etiologies are endocrine abnormalities, intrinsic disorders of spermatogenesis, and obstruction of the ductal system. 23 24 25 Patients with documented azoospermia and oligospermia were not included in this study. Patients with any other chronic diseases were excluded from this study.…”