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ORPHA:432

Normosmic congenital hypogonadotropic hypogonadism

low confidenceSubtype of disorder

Also known as: Normosmic idiopathic hypogonadotropic hypogonadism · nIHH

Publications

19,061

Trials

72

Interventional, condition-specific

Researchers

1,095

Distinct authors in sample

Gene link

CCDC141, GNRH1, KLB

Strong

Readiness

5/6

Stages with a signal

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (8)

central hypogonadism · gonadotropic deficiency · hypogonadism, hypogonadotropic · hypogonadotropic hypogonadism · hypogonadotropic hypogonadism with or without anosmia · low gonadotropins (secondary hypogonadism) · normosmic congenital hypogonadotropic hypogonadism · secondary 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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — CCDC141, GNRH1, KLB, PLXNA3, SEMA3F

  2. LiteraturePresent

    19,061 matched papers (11,419 in last 10 years) Source

  3. Phenotype characterisedPresent

    2,425 HPO annotations (e.g. Weight loss; Increased circulating ACTH level; Adrenocortical cytomegaly) Source

  4. Animal modelPresent

    110 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    72 matched on ClinicalTrials.gov (7 recruiting in sample)

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 (CCDC141, GNRH1, KLB…).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

2,425

Associated phenotypes · MONDO:0018555

  • Weight loss
  • Increased circulating ACTH level
  • Adrenocortical cytomegaly
  • Fatigue
  • Decreased circulating luteinizing hormone level

Showing 5 of 2425 — open Monarch for the full list.

Animal models (Monarch / Alliance)

110

Model associations linked to this Mondo ID

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

23

Drugs / clinical candidates · MONDO_0018555

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

19,061

19,061 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.

19,061 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).

11,419 in the last 10 years · low confidence

Phrase hits: 17,407 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,095

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
    Li Y9 papers · 2025

    Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

    Papers in Europe PMC
  2. 02
    Wang X7 papers · 2026

    National Health Commission Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  3. 03
    Guo Y6 papers · 2026

    Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  4. 04
    Li H5 papers · 2025

    Reproductive Medicine Department, Liaocheng People's Hospital, No. 67 Dongchang West Road, Liaocheng 252000, China.

    Papers in Europe PMC
  5. 05
    Li X5 papers · 2026

    Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  6. 06
    Wang Y5 papers · 2026

    Service of Endocrinology, Diabetology and Metabolism, CHUV, Lausanne, Switzerland.

    Papers in Europe PMC
  7. 07
    Wu X5 papers · 2026

    National Health Commission Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  8. 08
    Castro S4 papers · 2026

    Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires, Argentina.

    Papers in Europe PMC
  9. 09
    Chen Y4 papers · 2026

    Department of Endocrinology, The Third Affiliated Hospital of Chongqing Medical University, Chongqing, China, cqmu.edu.cn.

    Papers in Europe PMC
  10. 10
    Grinspon RP4 papers · 2026

    Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires, Argentina.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

72

interventional trials for this specific condition

72 interventional trials matched this specific condition name; 7 currently recruiting in our sample. 211 trials are registered for hypogonadism, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

72 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98th percentile).

low confidence · 98th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: hypogonadism

211

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.

Recruiting under the broader category

Observational and natural-history studies

17 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

Open the complete matched search on ClinicalTrials.gov

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Normosmic congenital hypogonadotropic hypogonadism — check Associations / patient organisations on that page.

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.

("Normosmic congenital hypogonadotropic hypogonadism" OR "Normosmic idiopathic hypogonadotropic hypogonadism" OR "central hypogonadism" OR "gonadotropic deficiency" OR "hypogonadism, hypogonadotropic" OR "hypogonadotropic hypogonadism" OR "hypogonadotropic hypogonadism with or without anosmia" OR "low gonadotropins (secondary hypogonadism)" OR "secondary hypogonadism") OR ("CCDC141" OR "CCDC141 syndrome" OR "CCDC141-related" OR "GNRH1" OR "GNRH1 syndrome" OR "GNRH1-related" OR "KLB syndrome" OR "KLB-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Normosmic congenital hypogonadotropic hypogonadism" OR "Normosmic idiopathic hypogonadotropic hypogonadism" OR "central hypogonadism" OR "gonadotropic deficiency" OR "hypogonadism, hypogonadotropic" OR "hypogonadotropic hypogonadism" OR "hypogonadotropic hypogonadism with or without anosmia" OR "low gonadotropins (secondary hypogonadism)" OR "secondary hypogonadism"

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: 72 interventional · 17 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hypogonadism"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: nIHH

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "gonadotropic deficiency" also appears on ORPHA:238666
  • Publication count (19061) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:49:45.765Z