Objective: To present the clinical, chromosomal, and endocrinological features of 8 infertile
male cases with the 45, X/46, XY karyotype who were admitted to our infertility clinic …

The phenotypic spectrum of 45, X/46, XY mosaic males varies greatly. Previous reports have
only described cases with either oligozoospermia, growth retardation, or elevated …

Disorders of sex development (DSD) are congenital abnormalities as an atypical
development process in either gonadal or chromosomal structure. It is the cause of the …

OBJECTIVE: The 45, X/46, XY mosaic karyotype is expressed by a spectrum of genital
phenotypes, ranging from normal males through to ambiguous genitalia and to normal …

We hereby present a rare case of a 46, XY/45, XO/47, XXY mosaic male patient with a
predominance of the XY cell line. The patient, who exhibited phenotypic stigmata of both XO …

OBJECTIVE: To conduct clinicopathologic and cytogenomic diagnostics of an infertile male
with a karyotype of 45, X. DESIGN: Case report. SETTING: Research laboratory at a …

A 33-year-old male was referred for infertility. Examination revealed bilateral scrotal gonads
of soft consistency and small size. Semen analysis showed azoospermia. Elevated serum …

Abstract 45, X/46, XY mosaicism is a rare chromosomal abnormality and probably
underdiagnosed. Although clinical and genetic analyses have been performed in some …

Objective To analyze main clinical manifestations and cytogenetic characteristics of patients
with a 45, X/46, XY karyotype. Methods G-banding karyotype analysis was carried out. PCR …

Background: Males with 45, X/46, XY karyotype have two different types of cells. This
condition is associated with a wide range of clinical phenotypes. In infertile males, the …