RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:90793

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

high confidenceDisorder

Also known as: CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

75

44.5th percentile

Trials

0

Interventional, condition-specific

Researchers

375

Distinct authors in sample

Gene link

CYP17A1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of adrenal hyperplasia due to 17-alpha-hydroxylase (CYP17A1) deficiency and characterized by glucocorticoid deficiency, mineralocorticoid excess leading to hypokalemic hypertension and sex steroid deficiency (hypergonadotrophic hypogonadism). Undervirilization and even female in 46,XY males, primary amenorrhea in females and lack of pubertal development in both sexes is common. Residual CYP17A1 activity is associated with the severity of this condition with a large spectrum of variability, from presenting in early infancy, to unusually mild courses with isolated sex steroid deficiency but normal ACTH-stimulated cortisol in adult patients.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

17-alpha-hydroxylase/17,20-lyase deficiency · combined 17-hydroxylase/17,20-lyase 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 — CYP17A1

  2. LiteraturePresent

    75 matched papers (31 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 (CYP17A1).

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?

75

75 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.

75 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).

31 in the last 10 years · high confidence · 44.5th percentile (publications denominator)

Phrase hits: 75 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

375

Distinct author names in 75 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
    Waterman MR11 papers · 1993
    Papers in Europe PMC
  2. 02
    Simpson ER9 papers · 1992
    Papers in Europe PMC
  3. 03
    Yanase T6 papers · 1992

    Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235.

    Papers in Europe PMC
  4. 04
    Kagimoto M5 papers · 1992

    Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235.

    Papers in Europe PMC
  5. 05
    Winter JS5 papers · 1992
    Papers in Europe PMC
  6. 06
    Hong T4 papers · 2003

    Department of Endocrinology, Peking Union Medical, Hospital, Beijing, China. vivientao@yahoo.com

    Papers in Europe PMC
  7. 07
    Mantero F4 papers · 1991
    Papers in Europe PMC
  8. 08
    Scaroni C4 papers · 1991

    Istituto di Semeiotica Medica, University of Padova, Italy.

    Papers in Europe PMC
  9. 09
    Zhao-Lin L4 papers · 2003
    Papers in Europe PMC
  10. 10
    Auchus RJ3 papers · 2018

    Department of Pharmacology, University of Michigan, Ann Arbor, MI, USA; Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA. Electronic address: rauchus@med.umich.edu.

    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 17-alpha-hydroxylase deficiency" OR "CAH due to 17-alpha-hydroxylase deficiency" OR "Combined 17-hydroxylase/17,20-lyase deficiency" OR "17-alpha-hydroxylase/17,20-lyase deficiency"

Run this search on Europe PMC

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

"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" OR "CAH due to 17-alpha-hydroxylase deficiency" OR "Combined 17-hydroxylase/17,20-lyase deficiency" OR "17-alpha-hydroxylase/17,20-lyase deficiency" OR "CYP17A1" OR "chronic primary adrenal insufficiency"

Recall-expansion terms: CYP17A1, 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: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T03:55:05.506Z