46,XX testicular disorder of sex development

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Disease Overview

46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.

Synonyms

46, XX gonadal sex reversal
46,XX testicular DSD
46,XX testicular differences of sex development
46,XX testicular disorder of sex development
46,XX testicular disorders of Sex development
De la Chapelle syndrome
XX Male, Sry-positive
XX male syndrome
XX sex reversal
XX, male syndrome

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.