Three 46, XX hypogonadal subjects are described who exhibited different clinical and
genetic characteristics. Two patients, with complete sex‐reversal, are sterile males with …

OBJECTIVE Testicular differentiation can occur in the absence of the Y chromosome giving
XX sex‐reversed males. Although Y chromosomal sequences can be detected in the …

PURPOSE: The XX male syndrome presents with a spectrum of clinical appearances from
phenotypic male individuals to true hermaphrodites. Previous reports established the sex …

Two 46, XX true hermaphrodites and one XX male without genital ambiguities are reported.
They coexist in two generations of the same pedigree, with paternal transmission and in the …

We have evaluated 3 individuals with a rare form of 46, XX sex reversal. All of them had
ambiguous external genitalia and mixed wolffian and mullerian structures, indicating both …

Cytogenetic studies on a 17-year-old phenotypic male, with short stature and clinical and
hormonal features of hypogonadism similar to those of an XX male, revealed an X; Y …

A search for Y-specific DNA sequences has been performed in a sample of seven 46, XX
true hermaphrodites and one 45, X mixed gonadal dysgenesis case and compared with a …

Recently, the gene for the determination of maleness has been identified in the sex-
determining region on the short arm of the Y chromosome (SRY) between the Y …

A second case of phenotypic sex reversal associated with XYY sex chromosomes is
described. In cytogenetic studies of blood, bone marrow, skin fibroblasts and testis, 2 Y …

We have studied nine patients aged 1 month to 16 years with 46, XX karyotypes and
testicular tissue. Some of these patients were followed through puberty. Phenotypically, two …