Condition (MeSH)
Disorder of Sex Development, 46,XY
ClinicalTrials.gov lists 37 trials for Disorder of Sex Development, 46,XY or a narrower condition beneath it. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) has the most among industry and government lead sponsors, with 5.
Search trials, drugs, companies and investigators, and follow each one to the others. Individual plan, $249/seat/mo. Card required.
Trials per phase
6 of the 37 trials are tagged with Disorder of Sex Development, 46,XY itself; the rest are tagged with a narrower condition beneath it.
When did Disorder of Sex Development, 46,XY trials start? (19)
Shown in this order: most recent first, 1990 onwards. 2026 is partial: trials registered with a 2026 start date so far, not a full year.
Trials over time, by phase
- Phase 1
- Phase 2
- Phase 3
- Phase 4
- Not applicable
- Observational
Top of scale: 4
Trials registered with a start date in each year, 1990 onward, stacked by phase (complete years only; the current partial year is in the table's notes). The table below lists the same counts, most recent years first.
| Year | Trials started |
|---|---|
| 2026 (partial year) | 1 |
| 2025 | 1 |
| 2024 | 2 |
| 2023 | 1 |
| 2021 | 4 |
| 2020 | 1 |
| 2018 | 4 |
| 2016 | 1 |
| 2015 | 1 |
| 2013 | 2 |
Showing 10 of 19 earlier years.
No forecast is made for this condition: it averages 1.0 trial starts a year over the five years to September, under the 5 a year the method needs.
Recruitment duration, a model prediction: 3 trials still running at the 2026-10-09 snapshot, fewer than the 5 needed for a median. Source: ClinicalTrials.gov / AACT (CTTI), public domain.
What phase are Disorder of Sex Development, 46,XY trials in? (6)
Shown in this order: phase order.
Show the trials by phase as a table
| Phase | Trials |
|---|---|
| Phase 1 | 5 |
| Phase 2 | 2 |
| Phase 3 | 1 |
| Phase 4 | 3 |
| Not applicable | 8 |
| Observational | 18 |
How many Disorder of Sex Development, 46,XY trials are recruiting? (7)
Shown in this order: the order a trial moves through, from not yet recruiting to unknown.
| Status | Trials |
|---|---|
| Not yet recruiting | 2 |
| Recruiting | 10 |
| Active, not recruiting | 1 |
| Completed | 14 |
| Suspended | 1 |
Showing 5 of 7 statuses.
Status as registered on ClinicalTrials.gov. Each trial is counted once.
Which lead sponsors run the most Disorder of Sex Development, 46,XY trials? (3)
Shown in this order: most trials first. Lead sponsors the registry classes as industry, NIH, US federal, other government or network. A hospital or university the registry files as government can appear here. Sponsors it classes as academic or other are shown on the full page, because that class cannot separate an institution from a named investigator.
| Sponsor | Trials |
|---|---|
| Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 5 |
| National Institute of Environmental Health Sciences (NIEHS) | 2 |
| National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | 1 |
Which drugs are being tested for Disorder of Sex Development, 46,XY? (2)
Shown in this order: most trials first. One row per drug, matched to a single molecule under all its names, ranked by number of trials.
| Drug | Trials |
|---|---|
| GnRH | 7 |
| Anastrozole | 1 |
Interventions as named in the registry (11)
Shown in this order: most trials first.
| Drug | Trials |
|---|---|
| Kisspeptin 112-121 | 2 |
| r-hCG | 2 |
| Sequential intervention for HH using HCG and FSH | 1 |
| Short withdrawal of testosterone, gonadotropins or estrogenic compounds (see below) | 1 |
| Testosteron | 1 |
Showing 5 of 11 interventions.
These are the names sponsors entered on ClinicalTrials.gov that we have not matched to a single molecule. Some are drugs under a brand or code name; others are procedures, doses or arm labels.
Which publications cover Disorder of Sex Development, 46,XY? (2)
Shown in this order: major-topic papers first, then newest, then most linked to trials.
| Publication | Journal | Year | Major topic |
|---|---|---|---|
| Elevated plasma miR-210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development. | Molecular genetics & genomic medicine | 2022 | Yes |
| A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. | Human molecular genetics | 2016 | Yes |
Prevalence (6)
Shown in this order: jurisdiction, then disease name. Orphanet observation for the mapped ORPHA concept; the mapping relation column says whether that concept is exactly this condition or broader or narrower.
| Orphanet disease | Type | Class | Geography | Jurisdiction | Mapping relation |
|---|---|---|---|---|---|
| 46,XY difference of sex development | Annual incidence | <1 / 1 000 000 | Denmark | Not stated | Exact |
| 46,XY difference of sex development | Prevalence at birth | 1-9 / 100 000 | Denmark | Not stated | Exact |
| 46,XY difference of sex development | Annual incidence | <1 / 1 000 000 | Denmark | Not stated | Unspecified |
| 46,XY difference of sex development | Prevalence at birth | 1-9 / 100 000 | Denmark | Not stated | Unspecified |
| 46,XY difference of sex development | Annual incidence | <1 / 1 000 000 | Denmark | Not stated | Exact |
Showing 5 of 6 prevalence observations.
Rare-disease identity (2)
Shown in this order: exact, broader, narrower, other.
| Orphanet disease | ORPHA code | Relation | Source |
|---|---|---|---|
| 46,XY difference of sex development | 98085 | Exact | Orphadata Science knowledge files, Product 1 |
| 46,XY difference of sex development | 98085 | Exact | Orphanet Rare Disease Ontology (ORDO) |
Sub-conditions in MeSH (6)
MeSH descendants one level down with at least one trial, most trials first.
Not on this page
Not measured: delivery record.
Checked, with nothing recorded for this condition: serious adverse events in this condition's trials.