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46,XX sex reversal 1

MONDO:0100250

Also known as: ovotesticular DSD, ovotesticular disorder of sex development, 46,XX SEX reversal 1, 46,XX Sex reversal type 1, 46,XX Sex reversal, SRY-positive, 46,XX gonadal dysgenesis, complete, SRY-positive, 46XX sex reversal 1, X-linked dominant, SRXX1

4 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Endocrine system disorder (72) Reproductive system disorder (15) Human disease (14) Developmental defect during embryogenesis (8) Disorder of sexual differentiation (8) Gonadal disorder (3) Disease of genetic or genomic mechanism (2) 46,XX disorder of sex development (0)
Trials to join now! 3 Not yet finished but already full! 1
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  • Reading the genetic code to understand differences in sex development

    Knowledge-focused ENROLLING_BY_INVITATION

    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…

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

    Last updated Jul 24, 2026 00:00 UTC

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