46,XY disorder of sex development
MONDO:0020040Differences of sex development in individuals with 46,XY karyotype.
Also known as: 46,XY DSD, 46,XY differences of Sex development, 46,XY disorders of Sex development, 46, XY DSD, 46, XY disorders of sexual development, 46, XY female, XY female
13 clinical trials for this condition and its sub-types, 3 tagged with 46,XY disorder of sex development itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of 46,XY disorder of sex development
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Penile agenesis 2 trials
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Androgen insensitivity syndrome 1 trial · 2 incl. sub-types
2 sub-types
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Denys-Drash syndrome 1 trial
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WAGR syndrome 1 trial
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46,XY partial gonadal dysgenesis 0 trials
7 sub-types
- 46,XY sex reversal 10 0 trials
- 46,XY sex reversal 2 0 trials
- 46,XY sex reversal 3 0 trials
- 46,XY sex reversal 4 0 trials
- 46,XY sex reversal 6 0 trials
- 46,XY sex reversal 9 0 trials
- Testicular anomalies with or without congenital heart disease 0 trials
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Frasier syndrome 0 trials
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Meacham syndrome 0 trials
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PAGOD syndrome 0 trials
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Distal monosomy 9p 0 trials
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Testicular agenesis 0 trials
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Can frozen tissue preserve fertility for children with DSD?
Disease control Recruiting nowThis study tests whether gonadal tissue removed from children with disorders of sex development (DSD) can be frozen and stored to preserve fertility. The tissue is already being removed for medical reasons, such as preventing cancer. Researchers will check the tissue for viable g…
Sponsor: Erin Rowell • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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New DNA scan may unlock mysteries of sex development disorders
Diagnosis Recruiting nowThis study aims to find hidden genetic changes in people with disorders of sex development (DSD) whose standard genetic tests came back normal. Researchers will use a new technique called Optical Genome Mapping on a blood sample from 20 participants. The goal is to see if this me…
Sponsor: University Hospital, Montpellier • Aim: Diagnosis
Last updated Jun 27, 2026 07:53 UTC
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Italian study aims to map rare sex development condition
Knowledge-focused Recruiting nowThis study is collecting information from 520 children and teens in Italy with 46, XY DSD, a rare condition where a person's chromosomes don't match their physical sex development. Researchers will look at medical records to understand how common different features are and how th…
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC