ORPHA:99725
Pituitary gigantism
Also known as: Hypophyseal gigantism · Infantile and juvenile forms of acromegaly
Publications
437
81.2th percentile
Trials
2
Interventional, condition-specific
Researchers
1,205
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020479
- MeSH:D005877
- UMLS:C0017547
- NCIT:C93046
Additional Mondo synonyms (2)
hypophyseal gigantism · infantile and juvenile forms of acromegaly
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
437 matched papers (237 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
2 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?
437
437 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.
437 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).
237 in the last 10 years · high confidence · 81.2th percentile (publications denominator)
Phrase hits: 281 · MeSH hits: 160
Who's working on it?
1,205
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.
- 01Beckers A29 papers · 2026
Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumProgram on Developmental Endocrinology and GeneticsSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892-1862, USAHelmholtz Zentrum MünchenInstitute of Pathology, Neuherberg, GermanyDepartment of Molecular and Human GeneticsBaylor College of Medicine, Houston, Texas, USADepartment of Pediatric Endocrinology and DiabetesPrincess Margaret Hospital for Children, Subiaco, Western Australia, AustraliaDepartment of Clinical GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Liège, BelgiumEndocrinology and Diabetology UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of EndocrinologyUniversity of Brasilia, Brasilia, BrazilDepartment of Paediatric EndocrinologyRoyal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, UKINSERM U 693GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, FrancePediatric Endocrinology UnitUniversité Catholique de Louvain, Bruxelles, BelgiumMater Medical Research InstituteUniversity of Queensland, Brisbane, Queensland, AustraliaDepartment of EndocrinologyKEM Hospital, Mumbai, IndiaEndocrinology and Diabetes UnitBC Children's Hospital, Vancouver, British Columbia, CanadaSection of EndocrinologyDepartment of Medical Sciences, University of Ferrara, Ferrara, ItalyService d'Anatomie et Cytologie PathologiquesHopital Foch, Suresnes, FranceINSERM Unité 1016Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, FranceInstitute of Pediatric EndocrinologyEndocrinological Research Centre, Moscow
Papers in Europe PMC - 02Daly AF29 papers · 2026
Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumProgram on Developmental Endocrinology and GeneticsSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892-1862, USAHelmholtz Zentrum MünchenInstitute of Pathology, Neuherberg, GermanyDepartment of Molecular and Human GeneticsBaylor College of Medicine, Houston, Texas, USADepartment of Pediatric Endocrinology and DiabetesPrincess Margaret Hospital for Children, Subiaco, Western Australia, AustraliaDepartment of Clinical GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Liège, BelgiumEndocrinology and Diabetology UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of EndocrinologyUniversity of Brasilia, Brasilia, BrazilDepartment of Paediatric EndocrinologyRoyal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, UKINSERM U 693GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, FrancePediatric Endocrinology UnitUniversité Catholique de Louvain, Bruxelles, BelgiumMater Medical Research InstituteUniversity of Queensland, Brisbane, Queensland, AustraliaDepartment of EndocrinologyKEM Hospital, Mumbai, IndiaEndocrinology and Diabetes UnitBC Children's Hospital, Vancouver, British Columbia, CanadaSection of EndocrinologyDepartment of Medical Sciences, University of Ferrara, Ferrara, ItalyService d'Anatomie et Cytologie PathologiquesHopital Foch, Suresnes, FranceINSERM Unité 1016Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, FranceInstitute of Pediatric EndocrinologyEndocrinological Research Centre, Moscow
Papers in Europe PMC - 03Stratakis CA20 papers · 2026
Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA.
Papers in Europe PMC - 04Trivellin G20 papers · 2026
Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumProgram on Developmental Endocrinology and GeneticsSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892-1862, USAHelmholtz Zentrum MünchenInstitute of Pathology, Neuherberg, GermanyDepartment of Molecular and Human GeneticsBaylor College of Medicine, Houston, Texas, USADepartment of Pediatric Endocrinology and DiabetesPrincess Margaret Hospital for Children, Subiaco, Western Australia, AustraliaDepartment of Clinical GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Liège, BelgiumEndocrinology and Diabetology UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of EndocrinologyUniversity of Brasilia, Brasilia, BrazilDepartment of Paediatric EndocrinologyRoyal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, UKINSERM U 693GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, FrancePediatric Endocrinology UnitUniversité Catholique de Louvain, Bruxelles, BelgiumMater Medical Research InstituteUniversity of Queensland, Brisbane, Queensland, AustraliaDepartment of EndocrinologyKEM Hospital, Mumbai, IndiaEndocrinology and Diabetes UnitBC Children's Hospital, Vancouver, British Columbia, CanadaSection of EndocrinologyDepartment of Medical Sciences, University of Ferrara, Ferrara, ItalyService d'Anatomie et Cytologie PathologiquesHopital Foch, Suresnes, FranceINSERM Unité 1016Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, FranceInstitute of Pediatric EndocrinologyEndocrinological Research Centre, Moscow
Papers in Europe PMC - 05Korbonits M10 papers · 2026
Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, United Kingdom.
Papers in Europe PMC - 06Rostomyan L9 papers · 2019
Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumProgram on Developmental Endocrinology and GeneticsSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892-1862, USAHelmholtz Zentrum MünchenInstitute of Pathology, Neuherberg, GermanyDepartment of Molecular and Human GeneticsBaylor College of Medicine, Houston, Texas, USADepartment of Pediatric Endocrinology and DiabetesPrincess Margaret Hospital for Children, Subiaco, Western Australia, AustraliaDepartment of Clinical GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Liège, BelgiumEndocrinology and Diabetology UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of EndocrinologyUniversity of Brasilia, Brasilia, BrazilDepartment of Paediatric EndocrinologyRoyal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, UKINSERM U 693GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, FrancePediatric Endocrinology UnitUniversité Catholique de Louvain, Bruxelles, BelgiumMater Medical Research InstituteUniversity of Queensland, Brisbane, Queensland, AustraliaDepartment of EndocrinologyKEM Hospital, Mumbai, IndiaEndocrinology and Diabetes UnitBC Children's Hospital, Vancouver, British Columbia, CanadaSection of EndocrinologyDepartment of Medical Sciences, University of Ferrara, Ferrara, ItalyService d'Anatomie et Cytologie PathologiquesHopital Foch, Suresnes, FranceINSERM Unité 1016Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, FranceInstitute of Pediatric EndocrinologyEndocrinological Research Centre, Moscow
Papers in Europe PMC - 07Faucz FR8 papers · 2024
Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumProgram on Developmental Endocrinology and GeneticsSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892-1862, USAHelmholtz Zentrum MünchenInstitute of Pathology, Neuherberg, GermanyDepartment of Molecular and Human GeneticsBaylor College of Medicine, Houston, Texas, USADepartment of Pediatric Endocrinology and DiabetesPrincess Margaret Hospital for Children, Subiaco, Western Australia, AustraliaDepartment of Clinical GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Liège, BelgiumEndocrinology and Diabetology UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of EndocrinologyUniversity of Brasilia, Brasilia, BrazilDepartment of Paediatric EndocrinologyRoyal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, UKINSERM U 693GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, FrancePediatric Endocrinology UnitUniversité Catholique de Louvain, Bruxelles, BelgiumMater Medical Research InstituteUniversity of Queensland, Brisbane, Queensland, AustraliaDepartment of EndocrinologyKEM Hospital, Mumbai, IndiaEndocrinology and Diabetes UnitBC Children's Hospital, Vancouver, British Columbia, CanadaSection of EndocrinologyDepartment of Medical Sciences, University of Ferrara, Ferrara, ItalyService d'Anatomie et Cytologie PathologiquesHopital Foch, Suresnes, FranceINSERM Unité 1016Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, FranceInstitute of Pediatric EndocrinologyEndocrinological Research Centre, Moscow
Papers in Europe PMC - 08Pétrossians P8 papers · 2026
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.
Papers in Europe PMC - 09Petrossians P7 papers · 2023
Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumProgram on Developmental Endocrinology and GeneticsSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892-1862, USAHelmholtz Zentrum MünchenInstitute of Pathology, Neuherberg, GermanyDepartment of Molecular and Human GeneticsBaylor College of Medicine, Houston, Texas, USADepartment of Pediatric Endocrinology and DiabetesPrincess Margaret Hospital for Children, Subiaco, Western Australia, AustraliaDepartment of Clinical GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Liège, BelgiumEndocrinology and Diabetology UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of EndocrinologyUniversity of Brasilia, Brasilia, BrazilDepartment of Paediatric EndocrinologyRoyal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, UKINSERM U 693GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, FrancePediatric Endocrinology UnitUniversité Catholique de Louvain, Bruxelles, BelgiumMater Medical Research InstituteUniversity of Queensland, Brisbane, Queensland, AustraliaDepartment of EndocrinologyKEM Hospital, Mumbai, IndiaEndocrinology and Diabetes UnitBC Children's Hospital, Vancouver, British Columbia, CanadaSection of EndocrinologyDepartment of Medical Sciences, University of Ferrara, Ferrara, ItalyService d'Anatomie et Cytologie PathologiquesHopital Foch, Suresnes, FranceINSERM Unité 1016Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, FranceInstitute of Pediatric EndocrinologyEndocrinological Research Centre, Moscow
Papers in Europe PMC - 10Bours V6 papers · 2019
Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumProgram on Developmental Endocrinology and GeneticsSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892-1862, USAHelmholtz Zentrum MünchenInstitute of Pathology, Neuherberg, GermanyDepartment of Molecular and Human GeneticsBaylor College of Medicine, Houston, Texas, USADepartment of Pediatric Endocrinology and DiabetesPrincess Margaret Hospital for Children, Subiaco, Western Australia, AustraliaDepartment of Clinical GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Liège, BelgiumEndocrinology and Diabetology UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of EndocrinologyUniversity of Brasilia, Brasilia, BrazilDepartment of Paediatric EndocrinologyRoyal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, UKINSERM U 693GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, FrancePediatric Endocrinology UnitUniversité Catholique de Louvain, Bruxelles, BelgiumMater Medical Research InstituteUniversity of Queensland, Brisbane, Queensland, AustraliaDepartment of EndocrinologyKEM Hospital, Mumbai, IndiaEndocrinology and Diabetes UnitBC Children's Hospital, Vancouver, British Columbia, CanadaSection of EndocrinologyDepartment of Medical Sciences, University of Ferrara, Ferrara, ItalyService d'Anatomie et Cytologie PathologiquesHopital Foch, Suresnes, FranceINSERM Unité 1016Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, FranceInstitute of Pediatric EndocrinologyEndocrinological Research Centre, Moscow
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 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
3 observational studies match 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
- NCT00001595·RECRUITING·An Investigation of Pituitary Tumors and Related Hypothalmic Disorders
Conditions: Panhypopituitarism · Gigantism/Acromegaly · Prolactinoma · Cushing Disease·Matched via MeSH
- NCT00461188·RECRUITING·Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA
Conditions: Acromegaly · Gigantism · Familial Isolated Pituitary Adenoma · FIPA·Matched via MeSH
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.
"Pituitary gigantism" OR "Hypophyseal gigantism" OR "Infantile and juvenile forms of acromegaly" OR "Infantile and juvenile forms of the acromegaly"
MeSH descriptor terms unioned into the query: Gigantism
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pituitary gigantism" OR "Hypophyseal gigantism" OR "Infantile and juvenile forms of acromegaly" OR "Infantile and juvenile forms of the acromegaly" OR "Gigantism"
Interventional trials matched via: both, mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; 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 2026-07-27T06:13:46.125Z