ORPHA:752
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Also known as: 17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency · 17-ketosteroidreductase deficiency · 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Publications
1,589
88.1th percentile
Trials
0
Interventional, condition-specific
Researchers
262
Distinct authors in sample
Gene link
HSD17B3
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare difference of sex development characterized by 17-beta hydroxysteroid dehydrogenase 3 deficiency that affects individuals with a 46,XY karyotype leading to underandrogenization of the genitalia.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009916
- MeSH:C537805
- MeSH:C564868
- OMIM:264300
- UMLS:C0268296
- NCIT:C120203
Additional Mondo synonyms (3)
17 Beta HSD3 deficiency · 17 beta HSD3 deficiency · Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — HSD17B3
- LiteraturePresent
1,589 matched papers (1,186 in last 10 years) Source
- Phenotype characterisedPresent
18 HPO annotations (e.g. Hypospadias; Clitoral hypertrophy; Inguinal hernia) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Yes — we know a specific gene responsible (HSD17B3).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
18
Associated phenotypes · MONDO:0009916
- Hypospadias
- Clitoral hypertrophy
- Inguinal hernia
- Gynecomastia
- Cryptorchidism
Showing 5 of 18 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Hsd17b3tm1.2Mpo/Hsd17b3tm1.2Mpo [background:] involves: 129S6/SvEvTac * C57BL/6N * C57BL/6NCrl·MGI:6508693·Mus musculus
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?
1,589
1,589 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,589 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).
1,186 in the last 10 years · high confidence · 88.1th percentile (publications denominator)
Phrase hits: 31 · MeSH hits: 0
Who's working on it?
262
Distinct author names in 31 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.
- 01Andersson S3 papers · 2001
Department of Biochemistry, Merck Research Laboratories, Rahway, New Jersey 07065, USA.
Papers in Europe PMC - 02Hughes IA3 papers · 2004Papers in Europe PMC
- 03Wilson JD3 papers · 2001
Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390-8857, USA. jwils1@med.swmed.edu
Papers in Europe PMC - 04Ahmed SF2 papers · 2016
Scottish Genital Anomaly Network, Scotland, UK. gcl328@clinmed.gla.ac.uk
Papers in Europe PMC - 05Bloise W2 papers · 2000Papers in Europe PMC
- 06Fisher AD2 papers · 2022
Andrology, Women Endocrinology and Gender Incongruence, Careggi University Hospital, Florence, Italy.
Papers in Europe PMC - 07Haghighat D2 papers · 2025
Department of Obstetrics and Gynecology, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA.
Papers in Europe PMC - 08Horowitz K2 papers · 2025
Department of Human Genetics, McGill University, Montreal, Québec, Canada.
Papers in Europe PMC - 09
- 10Joly Y2 papers · 2025
Centre of Genomics and Policy, McGill University, Montreal, Québec, Canada.
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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)
- ctis·2025-523616-36-00·Authorised·Exploratory study evaluating the relevance of [68Ga]Ga-FAPI-46 for staging and identifying progressing patients with transthyretin cardiac amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-524434-25-00·Authorised·"Contribution of 68Ga-FAPI-46 PET-CT in the initial staging of gastric cancers eligible for curative treatment" "FAPGASTRO"
skipped — LLM skipped (--skip-llm)
- ctis·2025-523971-46-00·Authorised·A single-arm, open-label, multi-centre, phase I/II first-in-human study evaluating the safety and clinical activity of QEL-005, an autologous CAR T-regulatory cell therapy treatment targeting CD19, in patients with diffuse cutaneous systemic sclerosis (dcSSc) and in patients with difficult to treat rheumatoid arthritis (D2TRA).
skipped — LLM skipped (--skip-llm)
- ctis·2024-511977-31-01·Authorised·68Ga-FAPI-46 PET for Giant Cell Arteritis-Polymyalgia Rheumatica Spectrum Disease
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·2025-523868-20-00·Authorised·Efficacy and safety of a novel dual pH-dependent delayed-release ColeseveLam for the trEatment of bile Acid diarrhoea: a Randomized, double-blind, parallel-group, placebo-controlled clinical trial - CLEAR
skipped — LLM skipped (--skip-llm)
- ctis·2025-522834-30-01·Authorised·Fibroblast markers to tackle fibrosis in immune-mediated inflammatory diseases
skipped — LLM skipped (--skip-llm)
- ctis·2025-521603-46-00·Authorised·A study testing a new treatment called TK-6302 for the first time in people with advanced cancers that have a genetic marker called HLA-A02:01 and a tumour protein called PRAME.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519384-18-00·Authorised, recruiting·A Phase 2/3, Multicenter, Open-Label, Non-Randomized Study to Evaluate Diagnostic Performance of GEH300079 (68Ga) Injection Positron-Emission Tomography (PET)/Computed Tomography (CT) for Detection of Peritoneal Carcinomatosis (PC) in Patients with Colorectal, Gastric, Ovarian, or Pancreatic Cancers (PERISCOPE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522742-46-00·Authorised·CANIDIAP; CANagliflozin In DIAlysis Patients
skipped — LLM skipped (--skip-llm)
- ctis·2025-523476-23-00·Authorised·Tick-Borne Encephalitis (TBE) Remdesivir Efficacy Assessment Trial (TREAT) – A phase 2 proof-of-concept, national, multicenter, randomized, double-blind, placebo-controlled clinical study designed to evaluate the efficacy of remdesivir in adult patients hospitalized for TBE
skipped — LLM skipped (--skip-llm)
- ctis·2025-524527-46-00·Cancelled·A single and multiple ascending dose study of topical ladarixin ophthalmic solution in healthy volunteers
skipped — LLM skipped (--skip-llm)
- ctis·2025-523032-39-00·Authorised·Improved baseline staging with 68Ga-FAPI-46 PET in non-small cell lung cancer – a pilot study
skipped — LLM skipped (--skip-llm)
- ctis·2025-522848-40-00·Authorised, ongoing·Impact of EXercise on quality of life of early breast cancer patients on treatment with adjuvant Aromatase Inhibitors with or without CDK4/6 inhibitors. "The EX-AI study"
skipped — LLM skipped (--skip-llm)
- ctis·2025-521217-46-00·Cancelled·Impact of influenza vaccination on nasal resident memory immune responses and respiratory peripheral memory immune responses - MUCOVAC 2
skipped — LLM skipped (--skip-llm)
- ctis·2025-522346-46-00·Authorised, ongoing·Study of Oral MC-1 for the Treatment of Patients with PNPO Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-521163-12-01·Authorised·The use of [68Ga]Ga-FAPI PET/MRI in assessing disease activity in patients with Graves’ orbitopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-520731-17-02·Authorised·68Ga-FAPI PET/CT imaging to assess pulmonary artery and right ventricle remodeling
SoFAPI study
skipped — LLM skipped (--skip-llm)
- ctis·2024-518365-10-00·Authorised, ongoing·A PHASE III, RANDOMIZED, OPEN-LABEL STUDY EVALUATING THE EFFICACY AND SAFETY OF DIVARASIB AND PEMBROLIZUMAB VERSUS PEMBROLIZUMAB AND PEMETREXED AND CARBOPLATIN OR CISPLATIN IN PATIENTS WITH PREVIOUSLY UNTREATED, KRAS G12C-MUTATED, ADVANCED OR METASTATIC NON-SQUAMOUS NON-SMALL CELL LUNG CANCER
skipped — LLM skipped (--skip-llm)
- ctis·2024-514248-95-00·Authorised·A 52 week, randomized, double-blind, double dummy multinational, multicenter, active controlled, 2-arm parallel group trial comparing CHF 5993 100/6/12.5 µg pMDI (fixed combination of extrafine Beclomethasone Dipropionate plus Formoterol Fumarate plus Glycopyrronium Bromide) to Seretide® Evohaler® 125/25 µg pMDI (fixed combination of fluticasone propionate / salmeterol xinafoate) in adolescent subjects with asthma uncontrolled on medium doses of inhaled corticosteroids in combination with long acting ß2 agonists.
skipped — LLM skipped (--skip-llm)
- ctis·2024-520037-76-00·Authorised, ongoing·INTERACT-FAPI: “The value of 68Ga-FAPI PET/CT for evaluating peritoneal treatment response.”
skipped — LLM skipped (--skip-llm)
- ctis·2024-517270-23-00·Authorised, ongoing·"Diagnostic value of 68Ga-FAPI-46 PET/CT in the initial work-up of pancreatic and biliary cancers eligible to a curative treatment" "FAPDIG"
skipped — LLM skipped (--skip-llm)
- ctis·2024-517987-46-00·Expired·A multicentre, randomised, double-blind, placebo-controlled, parallel-group trial to evaluate the efficacy and safety of BP1.4979 in adult patients with essential tremor
skipped — LLM skipped (--skip-llm)
- ctis·2025-521856-47-00·Authorised, ongoing·Treatment of Bile Acid Diarrhoea with Atorvastatin (BASTA)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518908-46-00·Authorised·Use of [18F]FET PET-MRI to improve detection of pituitary adenomas in Cushing’s disease
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 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency — 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.
("46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "46,XY difference of the sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17-ketoreductase deficiency" OR "17-ketosteroidreductase deficiency" OR "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "46,XY disorder of the sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17 Beta HSD3 deficiency" OR "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency") OR ("HSD17B3" OR "HSD17B3 syndrome" OR "HSD17B3-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "46,XY difference of the sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17-ketoreductase deficiency" OR "17-ketosteroidreductase deficiency" OR "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "46,XY disorder of the sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" OR "17 Beta HSD3 deficiency" OR "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-26T15:12:34.862Z