46,XX disorder of sex development

MONDO:0017576

Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.

Also known as: 46,XX DSD, 46,XX differences of Sex development, 46,XX disorders of Sex development, female pseudohermaphroditism

5 clinical trials for this condition and its sub-types, 0 tagged with 46,XX disorder of sex development itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Disorder of sexual differentiation (55)

Sub-types of 46,XX disorder of sex development

46,XX disorder of sex development-anorectal anomalies syndrome 0 trials
46,XX disorder of sex development-skeletal anomalies syndrome 0 trials
46,XX testicular disorder of sex development 0 trials
4 sub-types
- 46,XX sex reversal 1 0 trials
- 46,XX sex reversal 2 0 trials
- 46,XX sex reversal 3 0 trials
- 46,XX sex reversal 4 0 trials
46,XX true hermaphroditism, SRY-positive 0 trials
Michels Caskey syndrome 0 trials
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 0 trials

Including sub-types (5) Tagged with 46,XX disorder of sex development (0)

Trials to join now! 4 Not yet finished but already full! 1

Reading the genetic code to understand differences in sex development

Knowledge-focused By invitation only

This study aims to find genetic causes of conditions that affect the development of the gonads and genitals, such as hypospadias and ambiguous genitalia. Researchers will use whole exome sequencing to analyze DNA from 300 children and their families. The study also measures how r…

Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

Last updated Jul 24, 2026 00:00 UTC

46,XX disorder of sex development

Where it sits in the disease tree

Reading the genetic code to understand differences in sex development