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ORPHA:90791

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

high confidenceDisorder

Also known as: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency

Publications

68

19.9th percentile

Trials

0

Interventional, condition-specific

Researchers

261

Distinct authors in sample

Gene link

HSD3B2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms, including glucocorticoid and mineralocorticoid deficiencies in both sexes. Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. Females show normal or mildly virilized external genitalia (mild clitoromegaly, labial fusion) due to dehydroepiandrosterone (DHEA) accumulation and conversion to androgens by the normal HSD3B1.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

3-beta HSD 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

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

  1. Gene identifiedPresent

    Definitive — HSD3B2

  2. LiteraturePresent

    68 matched papers (5 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 47 for broader category congenital adrenal hyperplasia

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 (HSD3B2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

68

68 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=5449) is 41.

68 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)

Phrase hits: 63 · MeSH hits: 5

Open Europe PMC search

Who's working on it?

261

Distinct author names in 68 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
    Simard J14 papers · 1997

    Medical Research Council Group in Molecular Endocrinology, CHUL Research Center, Québec, Canada.

    Papers in Europe PMC
  2. 02
    Rhéaume E13 papers · 1997

    Medical Research Council Group in Molecular Endocrinology, CHUL Research Center, Quebec, Canada.

    Papers in Europe PMC
  3. 03
    Labrie F11 papers · 1995
    Papers in Europe PMC
  4. 04
    Sanchez R8 papers · 1997

    Medical Research Council Group in Molecular Endocrinology, CHUL Research Center, Quebec, Canada.

    Papers in Europe PMC
  5. 05
    Pang S7 papers · 2001

    Department of Pediatrics, Pediatric Endocrinology, University of Illinois, College of Medicine, Chicago, Illinois, USA. spang@tigger.cc.uic.edu

    Papers in Europe PMC
  6. 06
    Chang YT6 papers · 1996

    Division of Pediatric Endocrinology, University of Illinois, College of Medicine at Chicago 60612, USA.

    Papers in Europe PMC
  7. 07
    Luu-The V6 papers · 1995
    Papers in Europe PMC
  8. 08
    Morel Y6 papers · 1997

    INSERM U329, Department of Pediatrics, Université de Lyon, Hôpital Debrousse, Hospices Civils de Lyon, France.

    Papers in Europe PMC
  9. 09
    de Launoit Y4 papers · 1995
    Papers in Europe PMC
  10. 10
    Forest MG4 papers · 1997
    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). 47 trials are registered for congenital adrenal hyperplasia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

47 interventional trials matched congenital adrenal hyperplasia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: congenital adrenal hyperplasia

47

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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Congenital adrenal hyperplasia as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency" OR "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" OR "3-beta HSD deficiency"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Adrenal hyperplasia 2

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

"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency" OR "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" OR "3-beta HSD deficiency" OR "Adrenal hyperplasia 2" OR "HSD3B2" OR "chronic primary adrenal insufficiency"

Recall-expansion terms: HSD3B2, chronic primary adrenal insufficiency

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

Parent-category trials query:

"congenital adrenal hyperplasia"

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; 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 2026-07-27T03:54:54.544Z