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ORPHA:91

Aromatase deficiency

low confidenceDisorder

Also known as: Congenital estrogen deficiency

Publications

742

Trials

1

Interventional, condition-specific

Researchers

1,054

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CYP19A1

  2. LiteraturePresent

    742 matched papers (357 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 trialPresent

    1 matched on ClinicalTrials.gov

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)

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?

742

742 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=5449) is 41.

742 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).

357 in the last 10 years · low confidence

Phrase hits: 742 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,054

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Rochira V9 papers · 2023

    Department of Biomedical, Metabolic and Neural Sciences, University of Modena & Reggio Emilia, Modena Italy

    Papers in Europe PMC
  2. 02
    Carani C7 papers · 2015

    Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via P. Giardini 1355, 41126 Modena, Italy.

    Papers in Europe PMC
  3. 03
    Flück CE7 papers · 2021

    Pediatric Endocrinology and Diabetology, University Children's Hospital, Bern, Switzerland; Department of Clinical Research, University of Bern, Bern, Switzerland. Electronic address: christa.flueck@dkf.unibe.ch.

    Papers in Europe PMC
  4. 04
    Pandey AV5 papers · 2020

    Pediatric Endocrinology and Diabetology, University Children's Hospital, Bern, Switzerland; Department of Clinical Research, University of Bern, Bern, Switzerland.

    Papers in Europe PMC
  5. 05
    Balestrieri A4 papers · 2003

    Department of Internal Medicine, Chair of Endocrinology, University of Modena and Reggio Emilia, Policlinico, Modena, Italy.

    Papers in Europe PMC
  6. 06
    Fukami M4 papers · 2026

    Medical Support Center for Japan Environmental and Children's Study, National Center for Child Health and Development, Setagaya, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Li Y4 papers · 2025

    College of Marine Sciences, South China Agricultural University, Guangzhou 510642, China.

    Papers in Europe PMC
  8. 08
    Onay H4 papers · 2021

    Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.

    Papers in Europe PMC
  9. 09
    Rey RA4 papers · 2024

    Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.

    Papers in Europe PMC
  10. 10
    Belgorosky A3 papers · 2020

    Endocrinology Department, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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

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"

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" OR "CYP19A1"

Recall-expansion terms: CYP19A1

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (742) 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