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True hermaphroditism: a new case with complex mosaicism.

A Borghi¹, L Papi, U Bigozzi

¹Endocrinology Service, USL 10/D, Florence, Italy.

Genetic Counseling (Geneva, Switzerland)

|January 1, 1990

Summary

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This study documents a rare case of true hermaphroditism in a 21-year-old individual with quadruple mosaicism (45,X/46,XX/46,XY/47,XXY). This unique genetic finding expands our understanding of human sexual differentiation disorders.

Area of Science:

Human genetics
Endocrinology
Developmental biology

Background:

True hermaphroditism is a rare disorder of human sexual differentiation.
Over 450 cases reported, with approximately 250 undergoing chromosome studies.

Purpose of the Study:

To report a unique case of true hermaphroditism.
To document a novel quadruple mosaicism in a patient with this condition.

Main Methods:

Clinical examination
Surgical investigation
Laboratory analysis including chromosome studies

Main Results:

A 21-year-old male patient presented with genital and phenotypic abnormalities.
Investigations confirmed true hermaphroditism.

Related Experiment Videos

The patient exhibited quadruple mosaicism: 45,X/46,XX/46,XY/47,XXY.

Conclusions:

This is the first documented case of true hermaphroditism with this specific quadruple mosaicism.
The findings contribute to the understanding of complex genetic variations in sexual development.