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ORPHA:91

Aromatase deficiency

low confidenceDisorder

Also known as: Congenital estrogen deficiency

Publications

9,383

Trials

0

Interventional, condition-specific

Researchers

1,104

Distinct authors in sample

Gene link

CYP19A1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.

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 (3)

aromatase deficiency · congenital estrogen deficiency · congenital oestrogen 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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — CYP19A1

  2. LiteraturePresent

    9,383 matched papers (6,840 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Female pseudohermaphroditism; Delayed skeletal maturation; Hypergonadotropic hypogonadism) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (CYP19A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0013301

  • Female pseudohermaphroditism
  • Delayed skeletal maturation
  • Hypergonadotropic hypogonadism
  • Ovarian cyst
  • Primary amenorrhea

Showing 5 of 30 — 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)

1 associated chemical · 12 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • enilconazole · marker/mechanism

Pathways: Steroid hormone biosynthesis; Metabolic pathways; Ovarian steroidogenesis; C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone; Metabolism; Estrogen biosynthesis; Metabolism of steroid hormones; Biological oxidations

MyDisease.info · MONDO:0013301

Literature

Is anyone studying this?

9,383

9,383 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,383 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).

6,840 in the last 10 years · low confidence

Phrase hits: 742 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,104

Distinct author names in 200 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
    Zhang Y15 papers · 2026

    State Key Laboratory for Zoonotic Diseases, College of Veterinary Medicine, Jilin University, Changchun 130062, China.

    Papers in Europe PMC
  2. 02
    Li Y11 papers · 2026

    Jiangsu Institute of Poultry Science, Chinese Academy of Agricultural Sciences, Yangzhou, 225125, China.

    Papers in Europe PMC
  3. 03
    Li J10 papers · 2026

    Key Laboratory for Animal Genetics, Breeding, Reproduction and Molecular Design, College of Animal Science and Technology, Yangzhou University, Yangzhou, 225009, China.

    Papers in Europe PMC
  4. 04
    Liu X9 papers · 2026

    The Assisted Reproduction Center, Northwest Women's and Children's Hospital, Xi'an 710003, China; Department of Nutrition, Shanghai Jiai Genetic & IVF Institute, Obstetrics & Gynecology Hospital, Shanghai Medical College, Fudan University, Shanghai 200011, China.

    Papers in Europe PMC
  5. 05
    Liu Y9 papers · 2026

    College of Animal Science, Anhui Science and Technology University, Fengyang, Anhui 233100, China.

    Papers in Europe PMC
  6. 06
    Wang Z8 papers · 2026

    State Key Laboratory of Mariculture Biobreeding and Sustainable Goods, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao, Shandong 266071, China.

    Papers in Europe PMC
  7. 07
    Chen S6 papers · 2026

    Obstetrics & Gynecology Hospital of Fudan University, Shanghai Key Lab of Reproduction and Development, Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, Shanghai 200433, China.

    Papers in Europe PMC
  8. 08
    Wang Y6 papers · 2026

    Key Laboratory of Biological Resources and Ecology of Pamirs Plateau of Xinjiang Uygur Autonomous Region, Kashi University, Kashi 844000, China.

    Papers in Europe PMC
  9. 09
    Sun J5 papers · 2026

    Key Laboratory for Animal Genetics, Breeding, Reproduction and Molecular Design, College of Animal Science and Technology, Yangzhou University, Yangzhou, 225009, China.

    Papers in Europe PMC
  10. 10
    Wang H5 papers · 2026

    College of Animal Science, Anhui Science and Technology University, Fengyang, Anhui 233100, China.

    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.

low 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 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · 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 (8)

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 Aromatase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Aromatase deficiency" OR "Congenital estrogen deficiency" OR "congenital oestrogen deficiency") OR ("CYP19A1" OR "CYP19A1 syndrome" OR "CYP19A1-related")

Run this search on Europe PMC

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

"Aromatase deficiency" OR "Congenital estrogen deficiency" OR "congenital oestrogen 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (9383) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:23:11.239Z