ORPHA:1772
45,X/46,XY mixed gonadal dysgenesis
Also known as: 45,X/46,XY MGD · 45,X0/46,XY MGD · 45,X0/46,XY mixed gonadal dysgenesis
Publications
114
51.7th percentile
Trials
0
Interventional, condition-specific
Researchers
683
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder/difference of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and associated to abnormal gonadal development and features of Turner-Syndrome.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015779
- NCIT:C120199
Additional Mondo synonyms (3)
45,X/46,XY disorder of Sex development · 45,X/46,XY gonadal dysgenesis · XY/X0
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
114 matched papers (67 in last 10 years) Source
- Phenotype characterisedPresent
60 HPO annotations (e.g. Muscle hypertrophy of the lower extremities; Azoospermia; Ambiguous genitalia, female) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
60
Associated phenotypes · MONDO:0015779
- Muscle hypertrophy of the lower extremities
- Azoospermia
- Ambiguous genitalia, female
- Penoscrotal hypospadias
- Male infertility
Showing 5 of 60 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
114
114 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.
114 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).
67 in the last 10 years · high confidence · 51.7th percentile (publications denominator)
Phrase hits: 114 · MeSH hits: 0
Who's working on it?
683
Distinct author names in 114 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.
- 01Sandberg DE8 papers · 2026
Department of Pediatrics and Communicable Diseases and the Child Health Evaluation and Research Center, University of Michigan Medical School, Ann Arbor, Michigan.
Papers in Europe PMC - 02Gardner M4 papers · 2026
Department of Pediatrics and Communicable Diseases and the Child Health Evaluation and Research Center, University of Michigan Medical School, Ann Arbor, Michigan.
Papers in Europe PMC - 03Vilain E4 papers · 2017
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California.
Papers in Europe PMC - 04Ahmed SF3 papers · 2025
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Royal Hospital for Children, Glasgow, UK.
Papers in Europe PMC - 05Caduff M3 papers · 2024
Department of Biology, University of Fribourg, Fribourg, Switzerland.
Papers in Europe PMC - 06Chen H3 papers · 2024
Department of Pediatrics, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.
Papers in Europe PMC - 07Eckel R3 papers · 2024
Department of Biology, University of Fribourg, Fribourg, Switzerland.
Papers in Europe PMC - 08Leuenberger C3 papers · 2024
Department of Biology, University of Fribourg, Fribourg, Switzerland.
Papers in Europe PMC - 09Rajpert-De Meyts E3 papers · 2025
Department of Growth and Reproduction, Copenhagen University Hospital, Copenhagen, Denmark.
Papers in Europe PMC - 10van Leeuwen K3 papers · 2026
Department of Surgery, Phoenix Children's Hospital, Phoenix, Arizona.
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
- NCT06518746·RECRUITING·Gonadal Dysgenesis Tissue Cryopreservation for Fertility Preservation
Conditions: Ovarian Cancer·Matched via name phrase
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 58 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 58 · 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 (58)
- ctis·2025-524233-45-00·Authorised·A first-in-human, randomized, double-blind, placebo-controlled, 3-part study assessing the safety, tolerability, pharmacodynamics and pharmacokinetics of GL0071 after single and repeated ascending subcutaneous doses in healthy normal weight, overweight and obese participants, as well as a 12-week treatment randomized, double blind, placebo-controlled exploratory Proof-of-Concept study in overweight and obese participants.
skipped — LLM skipped (--skip-llm)
- ctis·2024-516251-40-01·Authorised·Multi-Center, Placebo-Controlled, Phase 3 Study of Etripamil Nasal Spray (NS) in Patients with Atrial Fibrillation and Rapid Ventricular Rate (RVR). The ReVeRA-301 Trial.
skipped — LLM skipped (--skip-llm)
- ctis·2026-525727-24-00·Authorised·Prospective, multicentre, open-label, single arm trial on contraceptive efficacy, safety and tolerability of LPRI-CF113 (Drospirenone 4 mg + 2.8 mg) during 13 cycles.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523908-75-00·Authorised·A Phase IIb, randomised, double-blind, placebo-controlled, multicentre study to evaluate the efficacy and safety of concomitant use of eplontersen and ALXN2220 compared with eplontersen and placebo in adult participants with transthyretin-mediated amyloid cardiomyopathy (ATTR-CM).
skipped — LLM skipped (--skip-llm)
- ctis·2026-525682-45-00·Authorised·Efficacy of oral bicarbonate versus placebo on the risk of assisted delivery in nulliparous women with prolonged labour (ProLabour): protocol fora randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-524148-36-00·Authorised·Randomised open-label pilot Study on Thiamine supplementation to REduce braiN injury associated with chronic Alcohol use in outpatients with alcohol use disorder : STRENA
skipped — LLM skipped (--skip-llm)
- ctis·2026-525834-45-00·Authorised·LAFOV-Lung PET
skipped — LLM skipped (--skip-llm)
- ctis·2026-525643-32-00·Authorised·STOP - Safety and efficacy of a STOPping strategy versus classical maintenance dose of JAK inhibitors in deep remission patients with ulcerative colitis: a randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-525124-10-00·Authorised·A Phase 2, Open-Label Long-Term Extension Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon Skipping to Assess the Long-Term Safety, Tolerability, Pharmacokinetics, and Efficacy of Endosomal Escape Vehicle Phosphorodiamidate Morpholino Oligomer Platform Products (ELEVATE-LTE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524240-35-00·Authorised·OFA-VATS : Impact of opioid free anesthesia on postoperative quality of recovery and analgesia after video or robot assisted thoracic surgery
skipped — LLM skipped (--skip-llm)
- ctis·2025-525069-65-00·Authorised, ongoing·ERPPAD - Efficacy in Relapse Prevention: Psilocybin in Alcohol use disorder with Depressive symptoms
skipped — LLM skipped (--skip-llm)
- ctis·2025-521126-15-00·Authorised, recruiting·Safety and efficacy of treatment combination with ponatinib and asciminib in chronic myeloid leukemia patients resistant to ponatinib and/or asciminib
skipped — LLM skipped (--skip-llm)
- ctis·2025-522913-45-00·Authorised, ongoing·A study to test how well different doses of BI 3820768 are tolerated by people with advanced cancer (solid tumours)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523153-33-00·Authorised, recruiting·A Randomized, Multicenter, Double-Blind, Parallel-Group, Placebo and Active-Controlled Phase III Therapeutic Superiority Trial Comparing the Efficacy and Tolerability of a Fixed-Dose Combination of Diclofenac potassium + Thiocolchicoside to Diclofenac potassium (Cataflam®) in Patients with Acute Severe Low Back Pain.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524086-24-00·Authorised·Efficacy of Dexmedetomidine on Emergence Delirium in Children Undergoing Adenotonsillectomy: A Double-Blind Randomized Controlled Trial with Heart Rate Variability and Electroencephalography-Guided Anesthesia
skipped — LLM skipped (--skip-llm)
- ctis·2025-524443-12-00·Authorised, recruiting·Randomized adaptive assessment of post COVID syndrome treatments (RAPID): Evaluating the Efficacy of Bupropion for the Treatment of Post-COVID-19 Syndrome-associated Fatigue (ELAPSE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524123-45-00·Authorised·Treatment of low-flow vascular malformations with bleomycin electrosclerotherapy (BEST)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519515-34-00·Authorised·L-Thyroxine for the treatment of acute unilateral vestibulopathy (AUVP): a monocentric, double-blind, placebo-controlled trial (T4U)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523996-45-00·Authorised, ongoing·The POST-PRANDIAL HYPO-AVOID STUDY
Low-Dose Glucagon and Automated Insulin Delivery for Prevention of Spontaneous Exercise-Induced
Hypoglycemia in People with Type 1 Diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2024-512515-45-01·Authorised, ongoing·A Phase 1a/1b Open-Label Study Evaluating the Safety, Tolerability, Pharmacokinetics, and Efficacy of BBO-8520 in Subjects with Advanced KRASG12C Mutant Non-Small Cell Lung Cancer - The ONKORAS-101 Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-524320-21-00·Authorised, ongoing·Prehospital pulse-dose glucocorticoid in patients with STEMI – the PULSE-MI 2 trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523224-45-00·Authorised, ongoing·ROSETTA CRC-203: A Blinded, Randomized Phase 2/3 Study of Pumitamig in Combination with Chemotherapy Versus Bevacizumab in Combination with Chemotherapy in Participants with Previously Untreated, Unresectable, or Metastatic Colorectal Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-522752-45-00·Authorised·Prospective, multi-center, randomized, double-blinded, placebo-controlled phase IIb clinical trial to evaluate safety and efficacy of DUOFAG® in bacterial infection treatment in patients with complicated wounds
skipped — LLM skipped (--skip-llm)
- ctis·2025-523151-66-00·Authorised, ongoing·Early Lyophilised plasma In Patients with haemorrhagic Shock (ELIPS-Trial)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521602-18-00·Authorised·Efficacy and safety of Remimazolam compared to Ketamine and Propofol in Rapid Sequence Induction. A monocentric pilot randomised-controlled study
skipped — LLM skipped (--skip-llm)
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 45,X/46,XY mixed gonadal dysgenesis — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
"45,X/46,XY mixed gonadal dysgenesis" OR "45,X/46,XY MGD" OR "45,X0/46,XY MGD" OR "45,X0/46,XY mixed gonadal dysgenesis" OR "45,X/46,XY disorder of Sex development" OR "45,X/46,XY disorder of the Sex development" OR "45,X/46,XY gonadal dysgenesis" OR "XY/X0"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"45,X/46,XY mixed gonadal dysgenesis" OR "45,X/46,XY MGD" OR "45,X0/46,XY MGD" OR "45,X0/46,XY mixed gonadal dysgenesis" OR "45,X/46,XY disorder of Sex development" OR "45,X/46,XY disorder of the Sex development" OR "45,X/46,XY gonadal dysgenesis" OR "XY/X0"
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 2026-07-26T18:06:19.091Z