ORPHA:3000
Familial peripheral male-limited precocious puberty
Also known as: FMPP · Familial gonadotropin-independent male-limited sexual precocity · Male-limited precocious puberty · Testotoxicosis
Publications
316
70.6th percentile
Trials
1
Interventional, condition-specific
Researchers
766
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.
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.
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
316 matched papers (128 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
316
316 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.
316 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).
128 in the last 10 years · medium confidence · 70.6th percentile (publications denominator)
Phrase hits: 316 · MeSH hits: 0
Who's working on it?
766
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.
- 01Latronico AC11 papers · 2023
Department of Physiology and Biophysics, The University of Iowa College of Medicine, Iowa City, Iowa 52242, USA. anacl@usp.br
Papers in Europe PMC - 02
- 03Brito VN7 papers · 2023
Discipline of Endocrinology & Metabolism, Department of Internal Medicine, University of Sao Paulo Medical School, University of Sao Paulo, Sao Paulo 01246 903, Brazil.
Papers in Europe PMC - 04Mendonca BB7 papers · 2023
Discipline of Endocrinology & Metabolism, Department of Internal Medicine, University of Sao Paulo Medical School, University of Sao Paulo, Sao Paulo 01246 903, Brazil.
Papers in Europe PMC - 05Eugster EA6 papers · 2024
Division of Pediatric Endocrinology, Department of Pediatrics, Riley Hospital for Children at IU Health, Indiana University School of Medicine, 705 Riley Hospital Drive, Room 5960, Indianapolis, IN 46202, USA.
Papers in Europe PMC - 06Chan WY5 papers · 2006
Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-4429, USA. chanwy@mail.nih.gov
Papers in Europe PMC - 07Leschek EW5 papers · 2017
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1862, USA. ellen_leschek@nih.gov
Papers in Europe PMC - 08Narayan P5 papers · 2021
Department of Physiology, Southern Illinois University School of Medicine, Carbondale, Illinois pnarayan@siumed.edu.
Papers in Europe PMC - 09Okuno A5 papers · 1998Papers in Europe PMC
- 10Yano K5 papers · 1998
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892, USA.
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).
medium 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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT00250159·RECRUITING·Natural History Study of Patients With Excess Androgen
Conditions: Congenital Adrenal Hyperplasia (CAH) · Familial Male-Limited Precocious Puberty (FMPP)·Matched via name phrase
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 2026-07-26This 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.
"Familial peripheral male-limited precocious puberty" OR "Familial gonadotropin-independent male-limited sexual precocity" OR "Male-limited precocious puberty" OR "Testotoxicosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial peripheral male-limited precocious puberty" OR "Familial gonadotropin-independent male-limited sexual precocity" OR "Male-limited precocious puberty" OR "Testotoxicosis"
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 · 1 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
Synonyms dropped by stoplist: FMPP
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T21:57:47.164Z