Generalized Resistance to Thyroid Hormone: Disease Characteristics Report

Scope and terminology

Generalized resistance to thyroid hormone (GRTH) is the historical name for reduced tissue responsiveness to thyroid hormone affecting the hypothalamic–pituitary–thyroid axis and peripheral tissues. Most molecularly confirmed cases are now termed resistance to thyroid hormone beta (RTHβ). This distinction matters: RTHα, defects of hormone transport such as MCT8 deficiency, and defects of hormone metabolism are separate disorders. “Generalized,” “pituitary,” and “peripheral” RTH were originally clinical subdivisions, but they overlap and are less useful than molecular classification.

The strongest current authority is the 2024 European Thyroid Association (ETA) guideline, published July 2024 (DOI 10.1530/ETJ-24-0125). Its abstract states: “Impaired sensitivity to thyroid hormones encompasses disorders with defective transport of hormones into cells, reduced hormone metabolism, and resistance to hormone action,” and emphasizes that diagnosis combines clinical features with pathogenic variants while management rests on a limited evidence base. (persani20242024europeanthyroid pages 10-11, persani20242024europeanthyroid pages 9-10)

Table: This compact table summarizes high-value evidence for generalized resistance to thyroid hormone (RTHβ), emphasizing identifiers, genetics, biochemical diagnosis, recent cohort data, management, surveillance, ongoing studies, and translational animal findings.

1. Disease information

Definition

RTHβ is a rare, usually Mendelian disorder in which tissues show reduced sensitivity to triiodothyronine (T3), producing the characteristic biochemical combination of high free/total T4 and usually high free/total T3 with a non-suppressed TSH. Compensatory elevation of thyroid hormones maintains near-normal signaling in resistant tissues but can over-stimulate tissues in which TRα predominates, explaining simultaneous hypo-, eu-, and hyperthyroid features. The phenotype ranges from clinically asymptomatic to significant thyrotoxicosis. (persani20242024europeanthyroid pages 9-10, persani20242024europeanthyroid pages 2-3)

Identifiers and synonyms

• MONDO: MONDO:0009043, generalized resistance to thyroid hormone.
• Related molecular MONDO entry: MONDO:0700478, resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta.
• OMIM: 188570, generalized resistance to thyroid hormone. The ETA guideline separately lists 145650 for pituitary resistance.
• MeSH concept: thyroid hormone resistance syndrome; the exact current descriptor identifier should be validated directly against the production MeSH release before database ingestion.
• Common names: generalized thyroid hormone resistance; generalized RTH; resistance to thyroid hormone; thyroid hormone resistance syndrome; Refetoff syndrome; RTHβ/RTH-beta; impaired sensitivity to thyroid hormone due to THRB mutation.
• ICD: no highly specific, universally used ICD-10 code cleanly captures molecular RTHβ; it is commonly mapped under other specified endocrine/thyroid dysfunction. ICD-11 implementation should likewise be verified locally rather than inferring a molecularly specific code.

Open Targets links THRB with generalized RTH, molecular RTHβ, pituitary RTH, peripheral RTH, and the broader thyroid-hormone-resistance syndrome. These are aggregated disease–gene resources, not individual electronic health records. The Turkish study discussed below is aggregated retrospective patient-level clinical data. (OpenTargets Search: resistance to thyroid hormone-THRB)

2. Etiology, risk, and protective factors

Primary cause

The principal cause is a germline heterozygous pathogenic variant in THRB, encoding nuclear thyroid hormone receptor β. Approximately 75% of cases are familial/autosomal dominant, while the remainder include de novo disease. Mutant TRβ generally exerts a dominant-negative effect over wild-type receptor by reducing ligand binding, preventing corepressor release, impairing coactivator recruitment, or otherwise disrupting transcription at thyroid-hormone-response elements. (persani20242024europeanthyroid pages 9-10, buyukyılmaz2024clinicalcharacteristicsand pages 1-1)

About 10–15% of clinically convincing RTHβ phenotypes lack a detectable coding THRB variant. Proposed explanations include somatic mosaicism and deep intronic or other regulatory defects; this group should not automatically be assumed to have RTHβ until assay interference and alternative diagnoses are rigorously excluded. (persani20242024europeanthyroid pages 9-10, buyukyılmaz2024clinicalcharacteristicsand pages 3-3, belal20247684resistanceto pages 1-2)

Risk and protective factors

• Genetic risk: an affected parent, a de novo pathogenic THRB allele, or parental mosaicism. No established common susceptibility locus is used clinically.
• Family history: confers an approximately 50% transmission probability for a heterozygous affected individual, subject to variant interpretation and mosaicism.
• Environmental, infectious, occupational, dietary, smoking, alcohol, or lifestyle causes: none is established as a cause of Mendelian RTHβ.
• Protective alleles or environmental protective factors: none validated.
• Gene–environment interaction: not established for disease occurrence. Iodine exposure, intercurrent thyroid autoimmunity, pregnancy, medication, and thyroid ablation can alter hormone burden and clinical expression without causing the inherited receptor defect.
• Epigenetic causation: no validated disease-defining methylation or chromatin signature.

3. Phenotypes

Clinical expression is highly variable within and between families and is not reliably predicted by serum hormone concentration alone. Most manifestations can begin in childhood, while nodules, arrhythmia, metabolic complications, and cardiovascular events become more relevant during adulthood. The disorder is generally chronic and lifelong rather than episodic.

Major phenotype groups and suggested HPO terms

The December 2024 Turkish multicenter study examined 50 suspected/familial cases and molecularly confirmed RTHβ in 30 people from eight families. Its abstract reports: “Although most patients with RTHβ were asymptomatic, seven patients exhibited various symptoms.” It found eight heterozygous pathogenic/likely pathogenic missense variants, including three novel variants; 56% of affected children had goiter, seven adults had nodules, and two adults had papillary thyroid cancer. These cancer observations are important for surveillance but do not establish a population-level cancer penetrance from this small, selected cohort. DOI 10.4274/jcrpe.galenos.2024.2024-8-14, published December 2024. (buyukyılmaz2024clinicalcharacteristicsand pages 1-1, buyukyılmaz2024clinicalcharacteristicsand pages 2-3, buyukyılmaz2024clinicalcharacteristicsand pages 3-3)

Quality of life

Palpitations, anxiety, sleep problems, hearing impairment, goiter, and neurocognitive symptoms can impair school, work, and social functioning. However, no validated RTHβ-specific patient-reported outcome instrument, EQ-5D norm, or robust SF-36 cohort estimate was identified. QoL effects should therefore be recorded at the individual-patient level rather than assigned a population percentage.

4. Genetic and molecular information

Causal gene and protein

• Gene: THRB, thyroid hormone receptor beta.
• HGNC: HGNC:11799.
• Ensembl: ENSG00000151090.
• Protein: nuclear thyroid hormone receptor β; major isoforms TRβ1 and TRβ2.
• Origin: ordinarily germline; postzygotic/somatic mosaicism is a proposed explanation for some variant-negative cases. This is not a cancer-associated somatic disorder.

Pathogenic variants cluster predominantly in the ligand-binding domain and are commonly missense substitutions. Insertions, deletions, frameshifts, and truncating alleles can occur and may produce more severe receptor dysfunction. The Turkish cohort's eight variants were all heterozygous missense changes; because the retrieved evidence did not expose every HGVS expression and ClinVar accession, these should be imported directly from ClinVar/the primary article rather than reconstructed. (buyukyılmaz2024clinicalcharacteristicsand pages 1-1, buyukyılmaz2024clinicalcharacteristicsand pages 2-3)

Functional consequence and classification

Disease-causing missense alleles are generally loss-of-function at the mutant receptor level but produce dominant-negative gain of interference at the cellular level. A receptor may retain DNA binding while failing to respond appropriately to T3, thereby maintaining corepressor complexes or failing to recruit coactivators and suppressing normal-receptor signaling. (persani20242024europeanthyroid pages 9-10)

For clinical reporting, each variant requires ACMG/AMP classification using segregation, population frequency, functional evidence, location/domain, computational evidence, and prior observations. Pathogenic RTHβ variants are expected to be rare or absent from gnomAD, but no single allele-frequency value applies to the disease. VUS findings must not be treated as diagnostic without segregation or functional support.

Modifiers, epigenetics, and chromosomes

Marked intrafamilial variability implies modifiers, including receptor-isoform distribution, hormone transporters, deiodinases, coregulators, age, and coincident thyroid disease. No specific modifier gene is validated for routine prognostication. No recurrent aneuploidy, translocation, inversion, methylation defect, or chromosomal syndrome defines RTHβ. CMA, karyotyping, and FISH are therefore not first-line tests.

5. Environmental information

RTHβ is not caused by toxin, radiation, pollution, occupation, lifestyle, or infection. Exogenous levothyroxine, liothyronine, amiodarone, biotin-related assay artifacts, antithyroid therapy, iodine status, and thyroid surgery can confound diagnosis or amplify manifestations but do not create the germline disorder. A 2024 case illustrates prolonged misclassification as hypothyroidism and escalation of levothyroxine despite elevated FT4/FT3 and non-suppressed TSH. DOI 10.1210/jendso/bvae163.2063, October 2024. (belal20247684resistanceto pages 1-2)

6. Mechanism and pathophysiology

Causal chain

1. Upstream trigger: heterozygous pathogenic THRB variant.
2. Protein defect: altered TRβ ligand binding or transcriptional-coregulator exchange.
3. Cellular effect: mutant receptor occupies or perturbs thyroid-hormone-response-element complexes and inhibits wild-type signaling.
4. Central endocrine consequence: pituitary/hypothalamic resistance weakens T3-mediated negative feedback.
5. Biochemical compensation: TSH remains inappropriately normal or rises, stimulating thyroid growth and increased T4/T3 synthesis.
6. Tissue-selective consequences: TRβ-rich tissues remain relatively resistant, while TRα-rich heart, skeletal muscle, brain, and bone are exposed to high circulating hormone and may become hyperthyroid.
7. Clinical outcome: mixed goitrous, metabolic, neurobehavioral, sensory, skeletal, and cardiovascular phenotypes. (persani20242024europeanthyroid pages 9-10)

Pathways and ontology suggestions

• Canonical pathway: nuclear-receptor-mediated thyroid hormone signaling and transcriptional regulation.
• Noncanonical signaling: TRs can influence PI3K–AKT and MAPK–ERK signaling, but their contribution to individual human RTHβ phenotypes remains incompletely resolved.
• Suggested GO biological processes: thyroid hormone receptor signaling pathway; cellular response to thyroid hormone stimulus; regulation of transcription by RNA polymerase II; negative regulation of thyroid-stimulating hormone secretion; sensory perception of sound; cone photoreceptor differentiation; lipid metabolic process.
• Suggested GO cellular components: GO:0005634 nucleus, chromatin, transcription-regulator complex.
• Suggested molecular functions: nuclear thyroid hormone receptor activity; ligand-activated transcription-factor activity; DNA-binding transcription-factor activity.
• Suggested cell types: pituitary thyrotroph (CL:0000476), hepatocyte (CL:0000182), cardiomyocyte (CL:0000746), retinal cone photoreceptor (CL:0000573), cochlear sensory hair cell, thyroid follicular cell, neuron, and osteoblast. Exact CL mappings should be version-validated.

Metabolic, immune, and tissue effects

Hepatic TRβ resistance can contribute to dyslipidemia and increased liver fat. Cardiac injury is principally downstream of chronic high hormone exposure in relatively TRα-sensitive myocardium, manifesting as tachyarrhythmia or failure rather than a primary inflammatory cardiomyopathy. Autoimmune thyroid disease may coexist, but autoimmunity is not the primary mechanism. No established disease-specific transcriptomic, proteomic, metabolomic, lipidomic, single-cell, spatial-transcriptomic, or multi-omic diagnostic signature currently exists. (persani20242024europeanthyroid pages 10-11, persani20242024europeanthyroid pages 9-10)

7. Anatomical structures affected

• Primary endocrine axis: hypothalamus, pituitary, and thyroid gland.
• TRβ-rich targets: liver, kidney, cochlea, and retina.
• Secondary systems: cardiovascular system, CNS/behavioral circuits, skeleton, skeletal muscle, and metabolic tissues.
• Suggested UBERON terms: thyroid gland (UBERON:0002046), pituitary gland (UBERON:0000007), hypothalamus (UBERON:0001898), liver (UBERON:0002107), kidney (UBERON:0002113), heart (UBERON:0000948), retina (UBERON:0000966), and cochlea (UBERON:0001844).
• Subcellular localization: primarily nuclear/chromatin-associated receptor complexes; noncanonical cytoplasmic signaling is also biologically plausible.
• Lateralization: not characteristic; systemic and generally bilateral sensory involvement is expected.

The expression statement in one 2024 case abstract uses “TSH receptor beta/alpha”; biologically, this should be interpreted as thyroid hormone receptor β/α, not the TSH receptor. (belal20247684resistanceto pages 1-2)

8. Temporal development

The molecular defect is congenital and lifelong. Biochemical abnormalities may be evident neonatally or discovered incidentally in childhood/adulthood. Goiter and neurodevelopmental manifestations often emerge during childhood; nodular thyroid disease, hepatic fat, dyslipidemia, arrhythmia, and cardiovascular complications may accumulate with age. There is no accepted stage system. Course and severity are variable rather than predictably progressive, and spontaneous molecular remission is not expected. Pregnancy is a critical period because fetal genotype determines whether maternal high thyroid hormone levels are compensatory or excessive for the fetus. (persani20242024europeanthyroid pages 10-11, persani20242024europeanthyroid pages 3-5)

9. Inheritance and population

Reported prevalence is approximately 1 in 18,750–40,000, equivalent to roughly 2.5–5.3 per 100,000. Reliable annual incidence estimates are unavailable. RTHβ affects all sexes and ancestries; no consistent sex ratio, geographic endemicity, or broadly applicable founder effect is established. (buyukyılmaz2024clinicalcharacteristicsand pages 1-1, belal20247684resistanceto pages 1-2)

Inheritance is usually autosomal dominant, with variable expressivity and clinically incomplete recognition. Biochemical penetrance is generally high for established dominant-negative variants, but clinical penetrance is variable. Anticipation is not recognized. Germline/parental mosaicism is possible but not quantified. Consanguinity is not a characteristic risk factor for dominant RTHβ, and population carrier-frequency estimates are not robust enough for general screening.

10. Diagnostics

Clinical biochemical workflow

1. Confirm elevated FT4/FT3 with non-suppressed TSH on a repeat sample.
2. Review medications and supplements, especially levothyroxine/liothyronine, amiodarone, heparin-related artifacts, and high-dose biotin.
3. Exclude analytical interference using another assay platform, dilution/blocking studies, equilibrium dialysis or ultrafiltration where needed; assess binding-protein abnormalities.
4. Evaluate family thyroid-function tests. Similar biochemical results in a first-degree relative strongly support inherited RTH.
5. Exclude TSH-secreting pituitary tumor (TSHoma) using clinical context, pituitary hormones/α-subunit where informative, sex-hormone-binding globulin, pituitary MRI, and specialist dynamic testing when uncertainty remains.
6. Sequence THRB and test segregation. The ETA recommends THRB sequencing when genuinely elevated thyroid hormones coexist with non-suppressed TSH. (belal20247684resistanceto pages 1-2, persani20242024europeanthyroid pages 2-3)

In the Turkish suspected cohort, one of 20 people without a THRB variant was found to have a TSHoma, demonstrating why a negative genetic test does not itself prove “non-THRB RTH.” (buyukyılmaz2024clinicalcharacteristicsand pages 2-3)

Genetic testing strategy

• First line: sequence THRB coding exons and splice boundaries, with deletion/duplication analysis if the platform does not provide it.
• Panel: a discordant-thyroid-function/thyroid-hormone-action panel may include THRB, THRA, SLC16A2, SECISBP2, DIO1/DIO2-related candidates, binding-protein genes, and genes relevant to familial dysalbuminemic hyperthyroxinemia, tailored to the biochemical phenotype.
• WES/WGS: appropriate when targeted testing is negative and the phenotype remains convincing. WGS is better suited to deep intronic/regulatory and structural variants; mosaic-aware analysis may be needed.
• RNA sequencing: potentially useful to prove abnormal splicing but not routine.
• CMA, karyotype, FISH, mitochondrial, and repeat-expansion testing: not routinely indicated.

Imaging and monitoring

Thyroid ultrasound evaluates goiter and nodules. In adults—especially after age 30 or when symptomatic—assess blood pressure, ECG, and, when indicated, echocardiography and cardiac biomarkers. Check fasting lipids/glucose and adult bone density. In children, monitor growth, development, hearing, cognition, and ADHD symptoms. (persani20242024europeanthyroid pages 3-5, persani20242024europeanthyroid pages 2-3)

Screening

RTHβ is not part of routine population or newborn genetic screening. Newborn TSH/T4 screening may identify unusual profiles but is not optimized for RTHβ. Cascade biochemical and variant testing of first-degree relatives is recommended after identifying a familial pathogenic variant. Prenatal diagnosis and PGT-M are technically possible following counseling.

11. Outcome and prognosis

Many affected people remain asymptomatic or mildly symptomatic and live independently. Nevertheless, contemporary guideline synthesis associates RTHβ with greater risks of atrial fibrillation, myocardial infarction, heart failure, and earlier mortality, supporting proactive cardiovascular surveillance. No reliable disease-specific 5-year/10-year survival percentage or treated-versus-untreated life-expectancy estimate is available in the retrieved evidence. (persani20242024europeanthyroid pages 9-10)

Potential morbidity includes persistent goiter/nodules, avoidable thyroidectomy after misdiagnosis, arrhythmia, cardiac failure, dyslipidemia, liver fat, low bone density, hearing/vision abnormalities, and educational or behavioral impairment. Prognosis is influenced by genotype, degree of hormone elevation, age, cardiovascular phenotype, thyroid structural disease, and—critically—iatrogenic treatment. Genotype correlates with FT4, resting energy expenditure, and LDL cholesterol, but individual prediction remains limited. (persani20242024europeanthyroid pages 10-11)

12. Treatment and current implementation

General principle

Treatment is phenotype-directed, not laboratory-normalization-directed. An asymptomatic patient with compensated high thyroid hormones generally does not require therapy. Routine antithyroid drugs, radioiodine, or thyroidectomy can destroy compensation and create difficult-to-treat hypothyroidism; the ETA recommends avoiding these approaches absent compelling comorbidity. (buyukyılmaz2024clinicalcharacteristicsand pages 2-3, persani20242024europeanthyroid pages 3-5)

Interventions

• Observation and surveillance: first-line for asymptomatic/mild disease.
• Beta-blocker: for tachycardia, tremor, or palpitations; suggested NCIt concept: beta-adrenergic blocking-agent therapy.
• TRIAC/tiratricol (3,5,3′-triiodothyroacetic acid): a thyroid-hormone analogue with relatively strong pituitary action that lowers TSH and circulating T4/T3. The ETA reports 1.4–2.8 mg two or three times daily, titrated to symptoms and FT4, and recommends expert-center supervision. It can be combined with beta-blockade; selected severe cardiomyopathy cases have used antithyroid medication plus TRIAC to control hormone production without allowing marked TSH-driven goiter. (persani20242024europeanthyroid pages 10-11, persani20242024europeanthyroid pages 3-5)
• Supraphysiologic intermittent liothyronine: alternate-day T3 has reduced goiter and helped selected ADHD phenotypes in case-based experience. It is not standardized therapy and requires specialist monitoring. (persani20242024europeanthyroid pages 9-10, belal20247684resistanceto pages 1-2)
• Antithyroid drugs/ablation/surgery: reserve for exceptional, severe situations or independent thyroid pathology such as suspicious cancer; replacement afterward can be challenging.
• ADHD or psychiatric therapy: treat according to standard clinical criteria while accounting for cardiovascular risk.
• Rehabilitation/support: educational accommodations, audiology support, and psychological care as indicated.

No approved gene therapy, CRISPR therapy, ASO/siRNA therapy, cell therapy, immunotherapy, or RTHβ-specific pharmacogenomic guideline exists. Evidence for TRIAC and intermittent T3 is largely observational/case-based, not derived from large randomized RTHβ trials.

Pregnancy

All affected pregnancies warrant joint endocrine–maternal-fetal-medicine care. Maternal RTHβ has been associated with miscarriage and small-for-gestational-age birth. Monitor fetal growth and heart rate; fetal tachycardia or growth restriction may justify carefully selected maternal antithyroid treatment. Management must consider whether the fetus inherited RTHβ: hormone levels compensatory for an affected mother/fetus can be excessive for an unaffected fetus. (persani20242024europeanthyroid pages 10-11, persani20242024europeanthyroid pages 3-5)

Trials and registries

Current real-world research is primarily observational:

• NCT06307990, Understanding, Diagnosis and Monitoring of Thyroid Hormone Action Defects: recruiting, target 150, Istituto Auxologico Italiano; ClinicalTrials.gov.
• NCT06566066, Register for Patients With Thyroid Hormone Resistance: recruiting, target 200, Charité Berlin; ClinicalTrials.gov.
• NCT00001159, Natural History of Thyroid Function Disorders: recruiting NIH observational platform, target 2,500; ClinicalTrials.gov.

No active late-phase disease-modifying RTHβ interventional trial was identified. Trials of tiratricol in MCT8 deficiency or resmetirom in steatotic liver disease should not be misclassified as RTHβ trials.

13. Prevention

Primary prevention of a de novo or inherited receptor variant by lifestyle or vaccination is not possible. Applicable measures are:

• Genetic counseling: autosomal-dominant recurrence risk, variable expressivity, prenatal diagnosis, and PGT-M.
• Secondary prevention: cascade testing, early recognition of discordant thyroid tests, and avoiding misdiagnosis as Graves disease, hypothyroidism, or TSHoma.
• Tertiary prevention: cardiac surveillance, thyroid examination/ultrasound, metabolic and bone monitoring, hearing and neurodevelopmental assessment, and avoidance of unnecessary ablation.
• Public-health prophylaxis, vaccination, sanitation, environmental remediation, and preventive medication: not applicable.

14. Other species and natural disease

No well-established, clinically important naturally occurring companion-animal or wildlife counterpart of human THRB-associated generalized RTH was identified. There is no zoonotic potential or cross-species transmission because the condition is genetic. Orthologues include mouse Thrb and corresponding vertebrate THRB genes; mechanisms of receptor-mediated transcription and feedback are evolutionarily conserved. Before assigning OMIA, NCBI Gene, or VBO identifiers, they should be verified directly in the relevant live database.

15. Model organisms

Mouse models

Available systems include global Thrb knockout, DNA-binding-deficient TRβGS knock-in, and dominant-negative ligand-binding-domain knock-in models such as ThrbPV. These permit separation of receptor absence, impaired canonical DNA binding, and dominant-negative mutant-receptor effects.

A November 2024 comparative phenotyping preprint found that pituitary–thyroid negative feedback requires TRβ DNA binding; both TRβKO and TRβGS mice had severe hearing loss, while retinal thickness, visual acuity, cone maturation, and opsin expression showed TRβ-dependent abnormalities. It also suggested roles for noncanonical TRβ signaling in liver triglycerides and glucose control. DOI 10.1101/2023.11.26.568063. (hones2024comparativephenotypingof pages 5-9)

Recapitulation and limitations

These mice reproduce central resistance, sensory-system defects, and selected metabolic manifestations and are useful for dissecting canonical versus noncanonical signaling. Some dominant-negative Thrb models develop thyroid hyperplasia/carcinoma under sustained TSH drive, offering a mechanistic tumor model; however, tumor severity in such homozygous or engineered mice must not be directly translated into human cancer penetrance. Species differences, allele dosage, global versus tissue-specific disruption, and controlled genetic backgrounds limit clinical extrapolation.

Cellular reporter assays remain useful for measuring T3 binding, transcriptional activation, dominant-negative activity, corepressor release, and coactivator recruitment. Patient-derived iPSC/organoid, CRISPR-screen, single-cell, and spatial-transcriptomic models are not yet established routine platforms for RTHβ.

Current expert interpretation and evidence gaps

The 2024 ETA panel's central expert position is that discordant thyroid tests must be verified before genetic diagnosis, and management should target clinically important tissue effects rather than force T4/T3 into reference ranges. This is particularly important because inappropriate treatment is common: 41.7% of historically managed patients in the Turkish series had received interventions before diagnosis, including antithyroid therapy or thyroidectomy. (buyukyılmaz2024clinicalcharacteristicsand pages 2-3, persani20242024europeanthyroid pages 3-5)

Major remaining gaps are prospective natural-history data, standardized phenotype frequencies, validated QoL measures, variant-specific penetrance, controlled RTHβ treatment trials, disease-specific mortality estimates, molecular biomarkers beyond thyroid-function tests and genotype, and human single-cell/multi-omic characterization. The newly recruiting registries are therefore clinically relevant recent developments rather than merely administrative studies.

References

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2. (persani20242024europeanthyroid pages 9-10): Luca Persani, Patrice Rodien, Carla Moran, W Edward Visser, Stefan Groeneweg, Robin Peeters, Samuel Refetoff, Mark Gurnell, Paolo Beck-Peccoz, and Krishna Chatterjee. 2024 european thyroid association guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action. Jul 2024. URL: https://doi.org/10.1530/etj-24-0125, doi:10.1530/etj-24-0125. This article has 58 citations and is from a peer-reviewed journal.

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