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ORPHA:243

46,XX gonadal dysgenesis

high confidenceDisorder

Also known as: 46,XX complete gonadal dysgenesis · 46,XX ovarian dysgenesis · 46,XX pure gonadal dysgenesis · Hypergonadotropic ovarian dysgenesis · XX female gonadal dysgenesis · XX-GD

Publications

155

53.4th percentile

Trials

0

Interventional, condition-specific

Researchers

871

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder/difference of sex development characterized by a primary ovarian defect, either a failure of the gonads to develop or resistance to gonadotrophin stimulation which leads to premature ovarian failure (POF) in otherwise phenotypically female 46,XX individuals.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

FSH-RO · follicular stimulating hormone-resistant ovaries · hypergonadotropic ovarian dysgenesis

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    155 matched papers (75 in last 10 years) Source

  3. Phenotype characterisedPresent

    127 HPO annotations (e.g. Pulmonary hypoplasia; Abnormal penis morphology; Hypospadias) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 3 for broader category gonadal dysgenesis

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

127

Associated phenotypes · MONDO:0009299

  • Pulmonary hypoplasia
  • Abnormal penis morphology
  • Hypospadias
  • Congenital diaphragmatic hernia
  • Ventricular septal defect

Showing 5 of 127 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

155

155 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

155 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

75 in the last 10 years · high confidence · 53.4th percentile (publications denominator)

Phrase hits: 155 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

871

Distinct author names in 155 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Lin L4 papers · 2020

    Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom.

    Papers in Europe PMC
  2. 02
    Nordenström A4 papers · 2022

    Department of Womens' and Childrens' Health, Karolinska Institutet, Stockholm, Sweden.

    Papers in Europe PMC
  3. 03
    Ogata T4 papers · 2026

    Department of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. t-ogata@po.iijnet.or.jp

    Papers in Europe PMC
  4. 04
    Achermann JC3 papers · 2022

    Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

    Papers in Europe PMC
  5. 05
    Chen X3 papers · 2025

    Department of Obstetrics and Gynecology, Maternal-Fetal Medicine Institute, Shenzhen Baoan Women's and Children's Hospital, Shenzhen University, Shenzhen, China.

    Papers in Europe PMC
  6. 06
    Hiort O3 papers · 2023

    Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, University of Lübeck, 23562 Lübeck, Germany.

    Papers in Europe PMC
  7. 07
    Levy-Lahad E3 papers · 2018

    From the Medical Genetics Institute, Shaare Zedek Medical Center (A.W.-S., P.R., O.L., S.Z., R.S., E.L.-L.), the Faculty of Medicine, Hebrew University of Jerusalem, Hadassah Medical School (A.W.-S., E.L.-L., D.Z.), the Department of Developmental Biology and Cancer Research, IMRIC (Institute for Medical Research, Israel-Canada), Faculty of Medicine, Hebrew University of Jerusalem (A.D., T.S., R.K., O.G.), the Department of Genetics, Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem (A.B.-M., M.G.), and the Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center (D.Z.), Jerusalem, and the Pediatric Endocrinology Clinic, Assaf Harofeh Medical Center, Zerifin, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv (M.R.) - all in Israel; and the Division of Medical Genetics, Department of Medicine and the Department of Genome Sciences, University of Washington, Seattle (S.G., T.W., M.-C.K.).

    Papers in Europe PMC
  8. 08
    Makita N3 papers · 2026

    Department of Endocrinology and Nephrology, University of Tokyo School of Medicine 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.

    Papers in Europe PMC
  9. 09
    Renbaum P3 papers · 2018

    From the Medical Genetics Institute, Shaare Zedek Medical Center (A.W.-S., P.R., O.L., S.Z., R.S., E.L.-L.), the Faculty of Medicine, Hebrew University of Jerusalem, Hadassah Medical School (A.W.-S., E.L.-L., D.Z.), the Department of Developmental Biology and Cancer Research, IMRIC (Institute for Medical Research, Israel-Canada), Faculty of Medicine, Hebrew University of Jerusalem (A.D., T.S., R.K., O.G.), the Department of Genetics, Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem (A.B.-M., M.G.), and the Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center (D.Z.), Jerusalem, and the Pediatric Endocrinology Clinic, Assaf Harofeh Medical Center, Zerifin, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv (M.R.) - all in Israel; and the Division of Medical Genetics, Department of Medicine and the Department of Genome Sciences, University of Washington, Seattle (S.G., T.W., M.-C.K.).

    Papers in Europe PMC
  10. 10
    Sairam MR3 papers · 2012
    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 3 trials are registered for gonadal dysgenesis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

3 interventional trials matched gonadal dysgenesis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: gonadal dysgenesis

3

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (60)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for 46,XX gonadal dysgenesis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("46,XX gonadal dysgenesis" OR "46,XX complete gonadal dysgenesis" OR "46,XX ovarian dysgenesis" OR "46,XX pure gonadal dysgenesis" OR "Hypergonadotropic ovarian dysgenesis" OR "XX female gonadal dysgenesis" OR "XX-GD" OR "FSH-RO" OR "follicular stimulating hormone-resistant ovaries")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"46,XX gonadal dysgenesis" OR "46,XX complete gonadal dysgenesis" OR "46,XX ovarian dysgenesis" OR "46,XX pure gonadal dysgenesis" OR "Hypergonadotropic ovarian dysgenesis" OR "XX female gonadal dysgenesis" OR "XX-GD" OR "FSH-RO" OR "follicular stimulating hormone-resistant ovaries"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"gonadal dysgenesis"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:03:36.473Z