ORPHA:52901
Isolated follicle stimulating hormone deficiency
Also known as: Isolated FSH deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
5,260
Trials
0
Interventional, condition-specific
Researchers
331
Distinct authors in sample
Gene link
FSHB
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired.
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:0009239
- MeSH:C537070
- OMIM:229070
- UMLS:C5574957
Additional Mondo synonyms (4)
FSHB hypogonadotropic hypogonadism · hypogonadotropic hypogonadism 24 without anosmia · hypogonadotropic hypogonadism caused by mutation in FSHB · isolated FSH 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.
- Gene identifiedPresent
Strong — FSHB
- LiteraturePresent
5,260 matched papers (2,507 in last 10 years) Source
- Phenotype characterisedPresent
32 HPO annotations (e.g. Male hypogonadism; Delayed menarche; Anosmia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (FSHB).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
32
Associated phenotypes · MONDO:0009239
- Male hypogonadism
- Delayed menarche
- Anosmia
- Azoospermia
- Testicular atrophy
Showing 5 of 32 — 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)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
5,260
5,260 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.
5,260 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).
2,507 in the last 10 years · low confidence
Phrase hits: 74 · MeSH hits: 0
Who's working on it?
331
Distinct author names in 74 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.
- 01Layman LC8 papers · 2020
Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Institute of Molecular Medicine and Genetics, Neuroscience Program, Medical College of Georgia, Georgia Regents University, Augusta, GA 30912, USA. lalayman@gru.edu
Papers in Europe PMC - 02Grigorova M3 papers · 2011
Human Molecular Genetics Research Group, Institute of Molecular and Cell Biology, University of Tartu, 51010 Tartu, Estonia.
Papers in Europe PMC - 03Laan M3 papers · 2011Papers in Europe PMC
- 04Latronico AC3 papers · 2022
Department of Internal Medicine, Discipline of Endocrinology and Metabolism, Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Brazil.
Papers in Europe PMC - 05Ausmees K2 papers · 2011Papers in Europe PMC
- 06Barnes RB2 papers · 2002
Department of Obstetrics and Gynecology, University of Chicago, Chicago, IL 60637, USA. rbarnes@babies.bsd.uchicago.edu
Papers in Europe PMC - 07Benveniste R2 papers · 1979Papers in Europe PMC
- 08Bernard DJ2 papers · 2018
Department of Pharmacology & Therapeutics, McGill University, Montréal, Québec, Canada.
Papers in Europe PMC - 09Boehm U2 papers · 2018
Department of Experimental Pharmacology, Center for Molecular Signaling, Saarland University School of Medicine, Homburg, Germany.
Papers in Europe PMC - 10Boerboom D2 papers · 2018
Département de Biomédecine Vétérinaire, Université de Montréal, St-Hyacinthe, Québec, Canada.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)
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 Isolated follicle stimulating hormone deficiency — check Associations / patient organisations on that page.
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.
("Isolated follicle stimulating hormone deficiency" OR "Isolated FSH deficiency" OR "FSHB hypogonadotropic hypogonadism" OR "hypogonadotropic hypogonadism 24 without anosmia" OR "hypogonadotropic hypogonadism caused by mutation in FSHB") OR (MESH:"Follicle-stimulating hormone deficiency, isolated") OR ("FSHB" OR "FSHB syndrome" OR "FSHB-related")MeSH descriptor terms unioned into the query: Follicle-stimulating hormone deficiency, isolated
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated follicle stimulating hormone deficiency" OR "Isolated FSH deficiency" OR "FSHB hypogonadotropic hypogonadism" OR "hypogonadotropic hypogonadism 24 without anosmia" OR "hypogonadotropic hypogonadism caused by mutation in FSHB" OR "Follicle-stimulating hormone deficiency, isolated"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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
- Publication count (5260) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T00:50:33.535Z