The DOI matches its Crossref record; 5 of the 7 references it cites were found in a registry or an index.
A Family with Complete Resistance to Thyrotropin-Releasing Hormone
Open accessAbstract
To the Editor: We report on a family with recessive resistance to the action of thyrotropin-releasing hormone (TRH) due to a nonsense homozygous mutation in the TRH receptor (TRHR) gene (p.R17X). W...
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“In children, L-T4 treatment was reported to promote an acceleration of growth velocity allowing attainment of target height [11, 28, 43].”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [11]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The diagnosis in 3 of 4 probands with biallelic TRHR mutations was made during childhood because of delayed growth accompanied by lethargy and fatigue or by overweight.”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [11]
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In the citing paper
“However, complete TRH resistance was uncovered by genetic testing in 1 pregnant woman [11].”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [11]
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In the citing paper
“Though prolonged neonatal jaundice was reported in 1 female, even complete TRH resistance does not cause severe neonatal hypothyroidism.”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [11]
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“The pathological mechanisms accounting for CeH are: (a) impaired thyrotrope stimulation or alterations in the thyroid hormone feedback set point (e.g., TRH resistance or TBL1X mutations) [11-13];”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [11]
The cited source says what the claim attributes to it.
In the citing paper
“Defective TRH action due to biallelic mutations in the TRHR gene has, to date, been described in few families [11, 28-30].”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [11]
The cited source says what the claim attributes to it.
In the citing paper
“Blunted TSH and PRL responses to TRH testing suggest TRHR involvement [11], though normal responses have also been reported when TRHR function is not completely disrupted [30].”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [11]
In the citing paper
“However, complete TRH resistance diagnosed by genetic testing has been diagnosed in a pregnant woman (233).”
In the citing paper
“However, a progressive onset of the thyrotrope defect beyond the critical neonatal period can be not infrequently seen in several of these genetic CeH cases (3, 9, 28, 30).”
From The diagnosis and management of central hypothyroidism in 2018 (2019) · cites this paper as [9]
In the citing paper
“In CeH children, LT4 therapy was accompanied by an acceleration of growth velocity thus allowing the attainment of target height (9, 30, 47).”
From The diagnosis and management of central hypothyroidism in 2018 (2019) · cites this paper as [9]
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Citations
Cites
Beck-Peccoz, P., Amr, S., Menezes-Ferreira, M. M., Faglia, G., & Weintraub, B. D. (1985) · New England Journal of Medicine · doi:10.1056/nejm198504253121703 · Cited by 261
Self-citationCollu, R., Tang, J., Castagné, J., Lagacé, G., Masson, N., Huot, C., Deal, C., Delvin, E., Faccenda, E., Eidne, K. A., et al. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.5.3918 · Cited by 207
Bonomi, M. (2001) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.86.4.1600 · Cited by 71
Self-citationCirculating Thyrotropin Bioactivity in Sporadic Central Hypothyroidism
Persani, L. (2000) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.85.10.3631 · Cited by 70
Self-citationMIYAI, K. (2007) · Endocrine Journal · doi:10.1507/endocrj.kr-107 · Cited by 28
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- 10.1210/jc.82.5.1561 · DOI · Paper page
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Items 101–121 of 121
Davenport, A. P., Gershengorn, M. C., & Hills, R. (2019) · IUPHAR/BPS Guide to Pharmacology CITE · doi:10.2218/gtopdb/f63/2019.4
Chen, Z., & Hennessey, J. V. (2020) · Springer eBooks · doi:10.1007/978-3-030-38976-5_6
Snow White and the Seven Dwarfs: a fairytale for endocrinologists
Zervas, A., Chrousos, G. P., & Livadas, S. (2021) · Endocrine Connections · doi:10.1530/ec-20-0615
Biochemical and molecular evaluation of thyroid gland disorders in children
Magne, F., Vliet, G. V., & DELVIN, E. E. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-817962-8.00035-4
Polak, M., & Szinnai, G. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.05556-2
van Trotsenburg, A. S. P., & Zwaveling‐Soonawala, N. (2022) · doi:10.1093/med/9780198870197.003.0174
Development of the Pituitary and Genetic Forms of Hypopituitarism
Gregory, L. C., & Dattani, M. (2022) · doi:10.1093/med/9780198870197.003.0017
Lania, A. G., Giavoli, C., Profka, E., & Beck‐Peccoz, P. (2019) · Springer eBooks · doi:10.1007/978-3-319-72102-6_17
Self-citationPhysiopathology, Diagnosis, and Treatment of Secondary Hypothyroidism
Lewiñski, A., & Stasiak, M. (2018) · Endocrinology · doi:10.1007/978-3-319-44444-4_7
Persani, L., & Bonomi, M. (2015) · Springer eBooks · doi:10.1007/978-3-319-19213-0_9
Self-citationGenetic Defects in Thyroid Hormone Synthesis and Action
Macchia, P. E., & Fenzi, G. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-5583-9.00092-7
Thyrotropin-releasing hormone receptors in GtoPdb v.2023.1
Davenport, A. P., Gershengorn, M. C., & Hills, R. (2023) · IUPHAR/BPS Guide to Pharmacology CITE · doi:10.2218/gtopdb/f63/2023.1
Zulfa, P. O., Debbyousha, M., Sucipto, K. W., Ekadamayanti, A. S., Firdausa, S., & Zufry, H. (2023) · Narra J · doi:10.52225/narra.v3i3.205
The hypothalamic–pituitary–thyroid axis is intact in male Irs4 knockout mice
Brûlé, E., Zhou, X., Wang, Y., Buddle, E. R. S., Ongaro, L., Loka, M., Boelen, A., & Bernard, D. J. (2024) · European Thyroid Journal · doi:10.1530/etj-23-0054
I131T Mutation’s Effects on Van der Waals Forces and Solvation Energy in Congenital Hypothyroidism
Nguyen, K., & Vu, O. (2023) · Journal of Student Research · doi:10.47611/jsrhs.v12i4.5648
Genetic causes of congenital hypothyroidism
Schoenmakers, N. A. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00172-2
Jiang, C., Chen, Z., & Hennessey, J. V. (2025) · Springer eBooks · doi:10.1007/978-3-031-86099-7_6
Thyroid-Stimulating Hormone (TSH)
Beck‐Peccoz, P., Bonomi, M., & Persani, L. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.00102-1
Self-citationHypothalamus-pituitary-thyroid axis
Bonomi, M., Cangiano, B., Casiraghi, A., & Persani, L. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00371-x
Self-citationPersani, L., Casiraghi, A., & Bonomi, M. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00352-6
Self-citationNew molecular insights in pathogenesis of congenital hypothyroidism
Stoupa, A. (2021) · theses.fr (ABES) · doi:10.70675/ba72d900z86edz4200z8ddcz1af6c6d513ae
Metadata
- Authors
- Bonomi, M., Busnelli, M., Beck-Peccoz, P., Costanzo, D., Antonica, F., Dolci, C., Pilotta, A., Buzi, F., & Persani, L.
- Affiliations
- IRCCS Istituto Auxologico Italiano (IT)
- University of Milan (IT)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2009-02-12
- Volume
- 360
- Issue
- 7
- Pages
- 731-734
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2044709865
- Cited by
- 122
- References
- 7
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 5 · 2023: 6 · 2022: 9 · 2021: 8 · 2020: 2 · 2019: 11 · 2018: 11 · 2017: 10 · 2016: 10 · 2015: 6 · 2014: 9 · 2013: 11 · 2012: 8
- FWCI
- 4.60
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System (Università degli Studi di Trento) (submittedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Receptor Mechanisms and Signaling
- Keywords
- thyrotropin-releasing hormone, TRH receptor, nonsense mutation, recessive resistance, familial inheritance, pituitary function
- MeSH terms
- Adult, Child, Female, Humans, Hypothyroidism, Male, Pedigree, Pregnancy, Thyrotropin-Releasing Hormone, Receptors, Thyrotropin-Releasing Hormone, Codon, Nonsense
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