OBJECTIVE: To describe and explore the current literature on the rare genetic condition of
46, XX SRY-negative males. In addition, we propose comprehensive clinical guidelines in …

Forty-six XX disorder of sex development is an uncommon medical condition observed at
times during the evaluation of a man's fertility. The following is a case series and literature …

Background 46, XX male syndrome is a rare disorder that usually causes infertility. This
study was established to identify the genetic causes of this condition in a series of 46, XX …

The 46, XX male syndrome (de la Chapelle syndrome or 46, XX testicular disorder of sex
development) is a rare form of sex reversal with complex mechanisms leading to a large …

Purpose: To identify the clinical characteristics of SRY-negative male patients and genes
related to male sex reversal, we performed a retrospective study using cases of 46, XX …

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 …

Background To review the possible mechanisms proposed to explain the etiology of 46, XX
sex reversal by investigating the clinical characteristics and their relationships with …

Purpose To investigate the clinical characteristics of different categories of sex-reversed 46,
XX individuals and their relationships with chromosomal karyotype and the SRY gene …

Summary 46, XX male sex reversal syndrome is one of the rarest sex chromosomal
aberrations. The presence of SRY gene on one of the X chromosomes is the most frequent …

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 …