Historically, the terms partial (PGD) and mixed gonadal dysgenesis (MGD) have been used
to describe incomplete testicular differentiation in individuals with 46, XY or 45, X/46, XY …

The objective of this study was to describe the change in diagnosis and prognosis of a child
with testicular dysgenesis and 46, XY karyotype after detection of a 45, X cell line and to …

Introduction Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it
can be associated with 46, XX, 46, XY or mosaic 45, X/46, XY karyotypes. Gonadal …

Abstract Background Forty-six, XY Differences/Disorders of Sex Development (DSD) are
characterized by a broad phenotypic spectrum ranging from typical female to male with …

Background: A subtype of disorders of sex development (DSD) in individuals with a 46, XX
karyotype who are phenotypically male is classified as testicular DSD (46, XX TDSD). These …

Eleven children with dysgenic male pseudohermaphroditism (DMP) and 18 boys with
isolated penile hypospadias, all with 46, XY karyotype, were studied. Testicular dysgenesis …

OBJECTIVE: To characterize the phenotypic spectrum of males with bilaterally descended
testes and a 45, X/46, X,(r) Y karyotype. DESIGN: Retrospective review of patient records; …

Objective To describe the gonadal features of patients with 45, X/46, XY mosaicism, and to
evaluate the prevalence of gonadal tumor in different phenotypes. Materials and Methods …

Ovotesticular disorder of sex development is historically thought to confer a relatively low
risk of germ cell malignancy relative to other disorders of sex development. This is likely due …

Abstract Background: The 45, X/46, XY karyotype has been associated with mixed gonadal
dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to …