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

Junyu Zhao; Lusi Xu; Chunyu Li; Fei Wang; Lin Liao; Jianjun Dong

doi:10.3389/fendo.2023.1131044

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

Front Endocrinol (Lausanne). 2023 Feb 10:14:1131044. doi: 10.3389/fendo.2023.1131044. eCollection 2023.

Authors

Junyu Zhao¹, Lusi Xu², Chunyu Li¹, Fei Wang¹, Lin Liao¹, Jianjun Dong³

Affiliations

¹ Department of Endocrinology and Metabology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, Shandong Key Laboratory of Rheumatic Disease and Translational Medicine, Shandong Institute of Nephrology, Jinan, China.
² Department of Endocrinology and Metabology, Shandong Provincial Qianfoshan Hospital, Shandong University, Jinan, China.
³ Department of Endocrinology and Metabology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, China.

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.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Amino Acid Sequence
Child
Diagnosis, Differential
Female
Humans
Male
Middle Aged
Mutation
Pituitary Neoplasms* / complications
Pituitary Neoplasms* / diagnosis
Pituitary Neoplasms* / genetics
Thyroid Hormone Resistance Syndrome* / complications
Thyroid Hormone Resistance Syndrome* / genetics
Young Adult

Grants and funding

This work was supported by the Projects of Medicine and Health Science Technology Development Program in Shandong Province (2016WS0499) and the Shandong Provincial Natural Science Foundation of China Grants (ZR2019PH025).