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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The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
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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In the citing paper
“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
Research works printed but not linked: 1
- 10.1210/jc.82.5.1561 · DOI · Paper page
Cited by
Sorted by citations
van Trotsenburg, P., Stoupa, A., Léger, J., Rohrer, T., Peters, C., Fugazzola, L., Cassio, A., Heinrichs, C., Beauloye, V., Pohlenz, J., et al. (2021) · Thyroid® · doi:10.1089/thy.2020.0333 · Cited by 469
Self-citationHypothalamus‐Pituitary‐Thyroid Axis
Ortiga-Carvalho, T. M., Chiamolera, M. I., Pazos-Moura, C. C., & Wondisford, F. E. (2016) · Comprehensive physiology · doi:10.1002/cphy.c150027 · Cited by 485
Generation of functional thyroid from embryonic stem cells
Antonica, F., Kasprzyk, D. F., Opitz, R., Iacovino, M., Liao, X.-H., Dumitrescu, A. M., Refetoff, S., Peremans, K., Manto, M., Kyba, M., et al. (2012) · Nature · doi:10.1038/nature11525 · Cited by 359
Self-citationFekete, C., & Lechan, R. M. (2014) · Endocrine Reviews · doi:10.1210/er.2013-1087 · Cited by 342
Central Hypothyroidism: Pathogenic, Diagnostic, and Therapeutic Challenges
Persani, L. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1616 · Cited by 295
Self-citation
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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