A Family with Complete Resistance to Thyrotropin-Releasing Hormone
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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 promotes acceleration of growth velocity allowing attainment of target height.
“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]
Table 1 (page not provided) reports that the proband received levothyroxine and reached 178 cm as an adult, within his parental target-height range of 172 ± 10 cm. The paper does not report an acceleration in growth velocity or establish this treatment effect in children generally. (LLM, conf=0.84)
Experimental — accuracy not yet measuredThe 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.
“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]
In the section “A Family with Complete Resistance to Thyrotropin-Releasing Hormone” (page unavailable), Table 1 places this paper’s proband at age 11 with height in the 3rd–10th percentile, and the text mentions a previously reported 9-year-old with a similar presentation. Our copy does not report a group of four probands or establish that three were diagnosed because of delayed growth accompanied by lethargy, fatigue, or overweight. (LLM, conf=0.80)
Experimental — accuracy not yet measuredComplete TRH resistance was uncovered by genetic testing in 1 pregnant woman.
“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]
Even complete TRH resistance does not cause severe neonatal hypothyroidism.
“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]
Impaired thyrotrope stimulation or alterations in the thyroid hormone feedback set point (e.g., TRH resistance or TBL1X mutations) is a pathological mechanism accounting for central hypothyroidism.
“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]
Defective TRH action due to biallelic mutations in the TRHR gene has, to date, been described in few families.
“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]
Blunted TSH and PRL responses to TRH testing suggest TRHR involvement, though normal responses have also been reported when TRHR function is not completely disrupted.
“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]
Complete TRH resistance diagnosed by genetic testing has been diagnosed in a pregnant woman.
“However, complete TRH resistance diagnosed by genetic testing has been diagnosed in a pregnant woman (233).”
Progressive onset of thyrotrope defect beyond the critical neonatal period can be not infrequently seen in several genetic CeH cases.
“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 children with central hypothyroidism, LT4 therapy is accompanied by acceleration of growth velocity, allowing attainment of target height.
“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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Lania, A. G., Giavoli, C., & Beck‐Peccoz, P. (2018) · Endocrinology · doi:10.1007/978-3-319-45013-1_13 · Cited by 4 · see citing works
Self-citationGenetic Causes of Congenital Hypothyroidism
Schoenmakers, N. A. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.65336-9 · Cited by 4 · see citing works
Tabaco y enfermedad arterial no coronaria. Intervenciones para el abandono del hábito tabáquico
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Genetic Defects in Thyroid Hormone Synthesis and Action∗
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Physiopathology, Diagnosis, and Treatment of Secondary Hypothyroidism
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- 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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