ORPHA:168588
Hyperandrogenism due to cortisone reductase deficiency
Also known as: 11-beta-hydroxysteroid dehydrogenase deficiency type 1
Publications
18
27th percentile
Trials
0
Interventional, condition-specific
Researchers
99
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0000193
- MeSH:C536447
- UMLS:C1291245
Additional Mondo synonyms (3)
deficiency of (R)-20-hydroxysteroid dehydrogenase · deficiency of cortisone reductase · hyperandrogenism due to cortisone reductase 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.”
3/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
18 matched papers (9 in last 10 years) Source
- Phenotype characterisedPresent
24 HPO annotations (e.g. Elevated serum 11-deoxycortisol; Hypertension; Irregular menstruation) Source
- Animal modelPresent
3 genotype models (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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
24
Associated phenotypes · MONDO:0000193
- Elevated serum 11-deoxycortisol
- Hypertension
- Irregular menstruation
- Congenital adrenal hyperplasia
- Premature adrenarche
Showing 5 of 24 — open Monarch for the full list.
Animal models (Monarch / Alliance)
3
Model associations linked to this Mondo ID
- Hsd11b1tm1Yko/Hsd11b1tm1Yko [background:] involves: 129P2/OlaHsd * MF1·MGI:3606188·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?
18
18 papers have ever been indexed 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.
18 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).
9 in the last 10 years · high confidence · 27th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 5
Who's working on it?
99
Distinct author names in 18 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.
- 01Flück CE2 papers · 2015
Department of Pediatrics (Pediatric Endocrinology and Diabetology, University Children's Hospital) and Department of Clinical Research, University of Bern, Freiburgstrasse 15, 3010, Switzerland. Electronic address: christa.flueck@dkf.unibe.ch.
Papers in Europe PMC - 02Ahmed SF1 paper · 2015
Developmental Endocrinology Research Group, Royal Hospital for Sick Children Yorkhill, Dalnair Street, Glasgow, G3 8SJ UK.
Papers in Europe PMC - 03Alkahtani HM1 paper · 2024
Department of Pharmaceutical Chemistry, College of Pharmacy, King Saud University, P.O Box 2457, 11451, Riyadh, Saudi Arabia.
Papers in Europe PMC - 04Ansari IA1 paper · 2024
Department of Drug Science and Technology, University of Turin, 10125, Turin, Italy.
Papers in Europe PMC - 05Ansari SA1 paper · 2024
Department of Pharmaceutical Chemistry, College of Pharmacy, King Saud University, P.O Box 2457, 11451, Riyadh, Saudi Arabia. sansari@ksu.edu.sa.
Papers in Europe PMC - 06Arlt W1 paper · 2019
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, United Kingdom.
Papers in Europe PMC - 07Auchus RJ1 paper · 2011Papers in Europe PMC
- 08Baranowski ES1 paper · 2019
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, United Kingdom.
Papers in Europe PMC - 09Barnard L1 paper · 2019
Department of Biochemistry, Stellenbosch University, Stellenbosch, South Africa.
Papers in Europe PMC - 10Baumgart S1 paper · 2022
Department of Organic Chemistry, Faculty of Pharmacy, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, Jurasza 2, 85-089 Bydgoszcz, Poland.
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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-30
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 (6)
- isrctn·ISRCTN51679511·Recruiting·A feasibility trial to test whether having all treatment before surgery is a better way of treating oesophageal cancer
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN13390479·Recruiting·The neurocognitive benefits of proton beam therapy for patients with oligodendroglioma
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN36798599·Recruiting·Phase II, double-blind, randomized, placebo-controlled, multicentre study to evaluate the safety, efficacy, and pharmacokinetics of TAK-242 and Granulocyte Colony-Stimulating Factor (G-CSF) (G-TAK) in subjects with severe alcoholic hepatitis (sAH) and acute-on-chronic liver failure (ACLF)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12348610·No longer recruiting·Safety and effectiveness of WF10 for diabetes-related blood vessel diseases
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN42886452·No longer recruiting·Recovery and survival of stem cell originated red cells
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN57186091·No longer recruiting·The efficacy, safety and tolerability of PSD502 in subjects with premature ejaculation (PE)
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 Hyperandrogenism due to cortisone reductase 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.
"Hyperandrogenism due to cortisone reductase deficiency" OR "11-beta-hydroxysteroid dehydrogenase deficiency type 1" OR "deficiency of (R)-20-hydroxysteroid dehydrogenase" OR "deficiency of cortisone reductase" OR "deficiency of the cortisone reductase"
MeSH descriptor terms unioned into the query: Cortisone reductase deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hyperandrogenism due to cortisone reductase deficiency" OR "11-beta-hydroxysteroid dehydrogenase deficiency type 1" OR "deficiency of (R)-20-hydroxysteroid dehydrogenase" OR "deficiency of cortisone reductase" OR "deficiency of the cortisone reductase" OR "Cortisone reductase deficiency"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 2026-07-27T08:28:24.977Z