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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Penis transplants could restore form and function for wounded warriors
Disease control Recruiting nowThis study investigates penile transplantation as a way to replace a severely damaged or missing penis with a donor organ, aiming to restore appearance, sensation, and sexual function. It includes men aged 18-69 who have lost their penis due to trauma, surgery, or birth defects. …
Phase 2/3 • Sponsor: Johns Hopkins University • Aim: Disease control
Last updated Jul 16, 2026 00:00 UTC
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New exercise program aims to get adults with intellectual disability moving more
Disease control Recruiting nowThis study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…
Sponsor: University of North Carolina, Chapel Hill • Aim: Disease control
Last updated Jun 27, 2026 09:08 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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Can freezing ovarian tissue help people with turner syndrome or early menopause have kids?
Knowledge-focused Recruiting nowThis study looks at whether freezing ovarian tissue can help preserve fertility in people aged 2-21 with conditions like Turner syndrome, galactosemia, or premature ovarian insufficiency. Participants may have surgery to remove and freeze a gonad, with a small piece used for rese…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 16, 2026 00:00 UTC
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Major study launches to uncover hidden health risks in androgen insensitivity
Knowledge-focused Recruiting nowThis study follows 650 people aged 8 to 99 with androgen insensitivity syndrome (AIS) to better understand their long-term health. Researchers will track hormones, bone density, heart health, metabolism, and tumor risk through regular check-ups and scans. No treatments are being …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 15, 2026 00:00 UTC
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Massive study aims to unlock mysteries of teen gynecologic disorders
Knowledge-focused Recruiting nowThis study is collecting medical data, blood, saliva, and tissue samples from up to 11,000 children, teens, and adults with known or suspected gynecologic conditions. The goal is to create a large database to better understand these conditions, including disorders of sex developm…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 08, 2026 00:03 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