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Review
. 2023 Feb 10:14:1131044.
doi: 10.3389/fendo.2023.1131044. eCollection 2023.

The clinical characteristics and gene mutations associated with thyroid hormone resistance syndrome coexisting with pituitary tumors

Junyu Zhao  1 , Lusi Xu  2 , Chunyu Li  1 , Fei Wang  1 , Lin Liao  1 , Jianjun Dong  3
Affiliations
Review

The clinical characteristics and gene mutations associated with thyroid hormone resistance syndrome coexisting with pituitary tumors

Junyu Zhao et al. Front Endocrinol (Lausanne). .

Abstract

Aims: Resistance to thyroid hormone (RTH) and pituitary tumors are both rare diseases, and the differential diagnosis of these two diseases is difficult in some cases. There are also patients who have both conditions, making diagnosis more difficult. To better understand this aspect, we analyzed the clinical characteristics and gene mutations of RTH coexisting with pituitary tumors.

Methods: Database retrieval was conducted in the PubMed, Cochrane Library, and SinoMed databases, and the search contents were case reports or case series of patients with RTH coexisting with pituitary tumors. The demographic, clinical manifestations, and imaging characteristics of pituitary tumors and gene mutations were summarized.

Results: Thirteen articles involving 16 patients with RTH coexistent with pituitary tumors, consisting of 13 female patients, one male patient, and two patients with unknown sex, were included. The patients were 10 to 79 years old and most patients were 41-55 years old (43.75%). The 16 patients were from seven different countries and three continents (Asia, the Americas, and Europe). All the patients showed an abnormal secretion of TSH, and five patients underwent transsphenoidal surgery. Finally, four patients were pathologically confirmed to have TSHoma. A total of 11 different mutations occurred at nine amino acid sequence sites (251, 310, 344, 347, 383, 429, 435, 438, and 453). Two different mutations occurred in both the no. 435 and no. 453 amino acid sequences. Fourteen patients provided their treatment histories, and all had undergone different treatment regimens.

Conclusions: Patients with both RTH and pituitary tumors had multiple clinical manifestations and different thyroid functions, imaging characteristics of pituitary tumors, genetic mutations of THRβ, and treatments. However, due to the limited number of cases, the patients were mainly women. Further studies with more cases that focus on the mechanism are still needed.

Keywords: THRβ; clinical characteristics; gene mutation; pituitary tumors; thyroid hormone resistance syndrome.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Literature review inclusion process.
Figure 2
Figure 2
Patients’ age distribution.
Figure 3
Figure 3
(A) Geographical country distribution ratio among the patients (%). (B) Continent distribution ratio among the patients (%).
Figure 4
Figure 4
(A) Schematic representation of THRβ1 and its gene mutations. (B) Schematic representation of THRβ2 and its deletion from amino acids 340 to 385.
See this image and copyright information in PMC

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References

    1. Beck-Peccoz P, Brucker-Davis F, Persani L, Smallridge RC, Weintraub BD. Thyrotropin-secreting pituitary tumors. Endocr Rev (1996) 17(6):610–38. doi: 10.1210/edrv-17-6-610 - DOI - PubMed
    1. Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev (1993) 14(3):348–99. doi: 10.1210/edrv-14-3-348 - DOI - PubMed
    1. Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, et al. . Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. J Clin Endocrinol Metab (2014) 99(3):768–70. doi: 10.1210/jc.2013-3393 - DOI - PMC - PubMed
    1. Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta (2013) 1830(7):3987–4003. doi: 10.1016/j.bbagen.2012.08.005 - DOI - PMC - PubMed
    1. Ando S, Sarlis NJ, Krishnan J, Feng X, Refetoff S, Zhang MQ, et al. . Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance. Mol Endocrinol (2001) 15(9):1529–38. doi: 10.1210/mend.15.9.0687 - DOI - PubMed

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