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ORPHA:90674

Isolated thyroid-stimulating hormone deficiency

low confidenceDisorder

Also known as: Isolated TSH deficiency · Isolated thyrotropin deficiency

Publications

1,813

Trials

0

Interventional, condition-specific

Researchers

1,032

Distinct authors in sample

Gene link

TSHB

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A type of central hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

CHNG4 · hypothyroidism, congenital, nongoitrous 4 · hypothyroidism, congenital, nongoitrous, type 4 · isolated TSH deficiency · isolated thyrotropin 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.

  1. Gene identifiedPresent

    Definitive — TSHB

  2. LiteraturePresent

    1,813 matched papers (992 in last 10 years) Source

  3. Phenotype characterisedPresent

    57 HPO annotations (e.g. Decreased circulating T4 concentration; Feeding difficulties; Wide anterior fontanel) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. 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 (TSHB).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

57

Associated phenotypes · MONDO:0010139

  • Decreased circulating T4 concentration
  • Feeding difficulties
  • Wide anterior fontanel
  • Hypotonia
  • Motor delay

Showing 5 of 57 — 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?

1,813

1,813 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,813 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).

992 in the last 10 years · low confidence

Phrase hits: 198 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,032

Distinct author names in 198 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.

  1. 01
    Miyai K10 papers · 1997

    Department of Laboratory Medicine, Osaka University Medical School.

    Papers in Europe PMC
  2. 02
    Refetoff S7 papers · 2026

    Department of Medicine, The University of Chicago, Chicago, Illinois, USA.

    Papers in Europe PMC
  3. 03
    Pohlenz J6 papers · 2011

    Children's Hospital, Johannes Gutenberg University of Mainz, D-55101 Mainz, Germany.

    Papers in Europe PMC
  4. 04
    Schoenmakers N6 papers · 2026

    Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke's Hospital, University of Cambridge Metabolic Research Laboratories, Cambridge, UK.

    Papers in Europe PMC
  5. 05
    Biebermann H5 papers · 2019

    Paediatric Endocrinology, University Children's Hospital, Charité, Humboldt University, Berlin, Germany.

    Papers in Europe PMC
  6. 06
    Ma SG5 papers · 2017

    Huai'an Hospital Affiliated to Xuzhou Medical College and Huai'an Second People's Hospital, Clinic of Endocrinology and Metabolism, Huai'an, China Phone: 86-517-8394 3591 E-mail: mashaogang@163.com.

    Papers in Europe PMC
  7. 07
    Targovnik HM5 papers · 2026

    Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquimica, Universidad de Buenos Aires, Argentina.

    Papers in Europe PMC
  8. 08
    Hashimoto K4 papers · 2006

    Department of Internal Medicine, Matsunami General Hospital, , Kasamatsu, Gifu, Japan.

    Papers in Europe PMC
  9. 09
    Medeiros-Neto G4 papers · 2003
    Papers in Europe PMC
  10. 10
    Nicholas AK4 papers · 2022

    Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke's Hospital, University of Cambridge Metabolic Research Laboratories, Cambridge, UK.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

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.

None of the matched observational studies is currently listed as 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 thyroid-stimulating hormone deficiency — 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.

("Isolated thyroid-stimulating hormone deficiency" OR "Isolated TSH deficiency" OR "Isolated thyrotropin deficiency" OR "CHNG4" OR "hypothyroidism, congenital, nongoitrous 4" OR "hypothyroidism, congenital, nongoitrous, type 4") OR ("TSHB" OR "TSHB syndrome" OR "TSHB-related")

Run this search on Europe PMC

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

"Isolated thyroid-stimulating hormone deficiency" OR "Isolated TSH deficiency" OR "Isolated thyrotropin deficiency" OR "CHNG4" OR "hypothyroidism, congenital, nongoitrous 4" OR "hypothyroidism, congenital, nongoitrous, type 4"

Study-type breakdown: 0 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

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 (1813) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:54:13.014Z