ORPHA:238666
Isolated congenital hypogonadotropic hypogonadism
Also known as: Gonadotropic deficiency · Isolated congenital gonadotropin deficiency · Isolated gonadotropin-releasing hormone deficiency
Publications
134
63.1th percentile
Trials
0
Interventional, condition-specific
Researchers
921
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome).
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:0016553
- UMLS:C5679849
Additional Mondo synonyms (1)
nonsyndromic congenital hypogonadotropic hypogonadism
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
134 matched papers (82 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 trialPartial
None under the specific name; 3 for broader category congenital hypogonadotropic hypogonadism
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?
134
134 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.
134 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).
82 in the last 10 years · medium confidence · 63.1th percentile (publications denominator)
Phrase hits: 134 · MeSH hits: 0
Who's working on it?
921
Distinct author names in 134 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.
- 01de Roux N12 papers · 2018
Inserm, U1141, Paris, France; Université Paris Diderot, Sorbonne Paris Cité, Hôpital Robert Debré, Paris, France; AP-HP, Laboratoire de Biochimie, Hôpital Robert Debré, Paris, France.
Papers in Europe PMC - 02Crowley WF Jr7 papers · 2015
Department of Reproductive Endocrinology, Massachusetts General Hospital, Boston 02114.
Papers in Europe PMC - 03Young J7 papers · 2024
Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, and.
Papers in Europe PMC - 04Balasubramanian R4 papers · 2022
Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital & Harvard Medical School, Boston, MA, United States.
Papers in Europe PMC - 05Chanson P4 papers · 2024
Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, and.
Papers in Europe PMC - 06Maione L4 papers · 2024
Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, and.
Papers in Europe PMC - 07Quinton R4 papers · 2022
Institute of Genetic Medicine, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne, United Kingdom.
Papers in Europe PMC - 08Salenave S4 papers · 2024
Service d'Endocrinologie et des Maladies de la Reproduction and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, and.
Papers in Europe PMC - 09Villanueva C4 papers · 2025
Pediatric Endocrinology Unit, Woman Mother Child Hospital, Lyon Civil Hospices, 69500 Bron, France.
Papers in Europe PMC - 10Christin-Maitre S3 papers · 2026
Department of Endocrine and Reproductive Medicine, Center of Endocrine Rare Diseases of Growth and Development (CRESCENDO), FIRENDO, Endo- ERN, Hospital Saint-Antoine, Paris, France.
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). 3 trials are registered for congenital hypogonadotropic hypogonadism, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
3 interventional trials matched congenital hypogonadotropic hypogonadism, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: congenital hypogonadotropic hypogonadism
3
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Isolated congenital hypogonadotropic hypogonadism" OR "Gonadotropic deficiency" OR "Isolated congenital gonadotropin deficiency" OR "Isolated gonadotropin-releasing hormone deficiency" OR "nonsyndromic congenital hypogonadotropic hypogonadism"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated congenital hypogonadotropic hypogonadism" OR "Gonadotropic deficiency" OR "Isolated congenital gonadotropin deficiency" OR "Isolated gonadotropin-releasing hormone deficiency" OR "nonsyndromic congenital hypogonadotropic hypogonadism"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital hypogonadotropic hypogonadism"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- "Gonadotropic deficiency" also appears on ORPHA:432
Ingested 2026-07-27T10:26:00.593Z