OBJECTIVE: To report a case of a 46, XX SRY-negative man with a male phenotype and
azoospermia. DESIGN: Case report. SETTING: Molecular and Cytogenetic Unit in a …

The SRY gene, located on the short arm of the Y chromosome, is responsible for
differentiation of the testis from the undifferentiated gonad. We report a 4-year-old patient …

The case of a 28 year old male with normal male phenotype, in whom repeated seminal
analysis showed complete azoospermia, is presented. Peripheral blood culture for …

OBJECTIVE: To describe a 46, XX male whose infertility is not accounted for by a
translocation of the SRY gene to the X chromosome or to the autosomes. DESIGN: Case …

XX maleness is a rare syndrome with a frequency of 1 in 20 000–25 000 males. XX males
exist in different clinical categories with ambiguous genitalia or partially to fully mature male …

BACKGROUND: The SRY gene encodes for a testis-specific transcription factor (TDF, testis
determining factor) that plays a key role in sexual differentiation and development in males …

46, XX subjects carrying the testis determining SRY gene usually have a completely male
phenotype. In this study, five very rare cases of SRY carrying subjects (two XX males and …

BACKGROUND: The importance of the Y chromosome in male determination hasbeen well
established for a long time. The presence of a translocation of chromosomal material …

XX maleness is the most common condition in which testes develop in the absence of a
cytogenetically detectable Y chromosome. Using fluorescence in situ hybridization (FISH) or …

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 …