Mixed gonadal dysgenesis: Clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients

Abstract excerpt

We describe clinical, cytogenetic, endocrine, and histopathological findings in 16 patients with mixed gonadal dysgenesis (MGD). All patients except 1 presented genital ambiguity and 10 of them had Ullrich-Turner manifestations. The 45,X/46,XY karyotype was the most frequent with a predominance of 45,X cells in both peripheral lymphocytes and gonads. In all cases Müllerian and Wolffian remnants and/or derivatives...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
• Share to Prenatal Screening and Diagnostics
• Share to Sexual Differentiation and Disorders