scholarly journals Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 196
Author(s):  
Jasna Suput Omladic ◽  
Maja Pajek ◽  
Urh Groselj ◽  
Katarina Trebusak Podkrajsek ◽  
Magdalena Avbelj Stefanija ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Thyroid Stimulating Hormone ◽  
Ablation Therapy ◽  
Tsh Secretion ◽  
Tshr Gene ◽  
Adult Male Patient ◽  
Stimulating Hormone

Background and Objectives. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor (TSHR) gene variants. So far, only around 40 families with FNAH have been reported. Patients with activating TSHR variants demonstrated the same classical signs and symptoms of hyperthyroidism as seen in patients with Graves’ disease. Since 2012, ablative therapy is recommended to avoid relapses of hyperthyroidism and its consequences. Case Presentation. We presented a young adult male patient with a novel heterozygous TSHR disease-causing variant p.Arg418Lys (c.1253G>A) in the exon 10, who presented with a mild but progressive FNAH, with a follow-up since infancy. Discussion. Constantly suppressed TSH, including during the euthyreosis in childhood and hypothyreosis after iodine ablation therapy, suggested central dysregulation of the TSH secretion.

Assignment of the human thyroid stimulating hormone receptor (TSHR) gene to chromosome 14q31

Genomics ◽  
1990 ◽  
Vol 8 (2) ◽  
pp. 233-236 ◽  
Author(s):  
M.F. Rousseau-Merck ◽  
M. Misrahi ◽  
H. Loosfelt ◽  
M. Atger ◽  
E. Milgrom ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Thyroid Stimulating Hormone ◽  
Human Thyroid ◽  
Tshr Gene ◽  
Stimulating Hormone

scholarly journals Somatic mutations of the thyroid-stimulating hormone receptor gene in feline hyperthyroidism: parallels with human hyperthyroidism

2005 ◽  
Vol 186 (3) ◽  
pp. 523-537 ◽  
Author(s):  
S G Watson ◽  
A D Radford ◽  
A Kipar ◽  
P Ibarrola ◽  
L Blackwood
Keyword(s):  
Hormone Receptor ◽  
Genetic Basis ◽  
Somatic Mutations ◽  
Receptor Gene ◽  
Thyroid Stimulating Hormone ◽  
Nodular Goitre ◽  
Tshr Gene ◽  
Toxic Nodular Goitre ◽  
Exon 10 ◽  
Stimulating Hormone

Hyperthyroidism is the most common endocrinopathy in cats, and is both clinically and histopathologically very similar to human toxic nodular goitre (TNG). Molecular studies on human TNG have revealed the presence of mis-sense mutations in the thyroid-stimulating hormone receptor (TSHR) gene, most frequently in exon 10. Our hypothesis was that similar mutations exist in hyperthyroid cats. Genomic DNA was extracted from 134 hyperplastic/ adenomatous nodules (from 50 hyperthyroid cats), and analysed for the presence of mutations in exon 10 of the TSHR gene. 11 different mutations were detected, one silent and 10 mis-sense, of which nine were somatic mutations. 28 of the 50 cats (67/134 nodules) had at least one mis-sense mutation. The mis-sense mutations were Met-452→Thr in 17 cats (35 nodules), Ser-504→Arg (two different mutational forms) in two cats (two nodules), Val-508→Arg in one cat (three nodules), Arg-530→Gln in one cat (two nodules), Val-557→Leu in 13 cats (36 nodules), Thr-631→Ala or Thr-631→Phe (each mutation seen in one nodule of one cat), Asp-632→Tyr in six cats (10 nodules) and Asp-632→His in one cat (one nodule). Five of these mutations have been associated previously with human hyperthyroidism. Of the 41 cats for which more than one nodule was available, 14 had nodules with different mutations. The identification of a potential genetic basis for feline hyperthyroidism is novel, increases our understanding of the pathogenesis of this significant feline disease, and confirms its similarity to TNG.

scholarly journals Dual control of pituitary thyroid stimulating hormone secretion by thyroxine and triiodothyronine in athyreotic patients

2017 ◽  
Vol 8 (6) ◽  
pp. 83-95 ◽  
Author(s):  
Rudolf Hoermann ◽  
John E. M. Midgley ◽  
Johannes W. Dietrich ◽  
Rolf Larisch
Keyword(s):  
Conversion Efficiency ◽  
Hormone Secretion ◽  
Thyroid Stimulating Hormone ◽  
Patient Complaints ◽  
Deiodinase Activity ◽  
Tsh Secretion ◽  
Patient Responses ◽  
Symptomatic Control ◽  
Stimulating Hormone

Background: Patient responses to levothyroxine (LT4) monotherapy vary considerably. We sought to differentiate contributions of FT4 and FT3 in controlling pituitary thyroid stimulating hormone (TSH) secretion. Methods: We retrospectively assessed the relationships between TSH and thyroid hormones in 319 patients with thyroid carcinoma through 2914 visits on various LT4 doses during follow-up for 5.5 years (median, IQR 4.2, 6.9). We also associated patient complaints with the relationships. Results: Under varying dose requirements (median 1.84 µg/kg, IQR 1.62, 2.11), patients reached TSH targets below 0.4, 0.1 or 0.01 mIU/l at 73%, 54% and 27% of visits. While intercept, slope and fit of linearity of the relationships between lnTSH and FT4/FT3 varied between individuals, gender, age, LT4 dose and deiodinase activity influenced the relationships in the cohort (all p < 0.001). Deiodinase activity impaired by LT4 dose significantly affected the lnTSH–FT4 relationship. Dose increase and reduced conversion efficiency displaced FT3–TSH equilibria. In LT4-treated patients, FT4 and FT3 contributed on average 52% versus 38%, and by interaction 10% towards TSH suppression. Symptomatic presentations (11%) accompanied reduced FT3 concentrations (–0.23 pmol/l, p = 0.001) adjusted for gender, age and BMI, their relationships being shifted towards higher TSH values at comparable FT3/FT4 levels. Conclusions: Variation in deiodinase activity and resulting FT3 levels shape the TSH–FT4 relationship in LT4-treated athyreotic patients, suggesting cascade control of pituitary TSH production by the two hormones. Consequently, measurement of FT3 and calculation of conversion efficiency may identify patients with impaired biochemistry and a resulting lack of symptomatic control.

scholarly journals Elevated thyroid-stimulating hormone is associated with poor sleep: a cross-sectional and longitudinal study

2021 ◽  
Author(s):  
Yuerong Yan ◽  
Jiaqi Li ◽  
Huairong Tang ◽  
Youjuan Wang ◽  
Weiwei Zhang ◽  
...  
Keyword(s):  
Sleep Quality ◽  
Thyroid Stimulating Hormone ◽  
Poor Sleep ◽  
Subjective Sleep Quality ◽  
Cross Sectional ◽  
Tsh Secretion ◽  
Quality Sleep ◽  
Good Sleep ◽  
Stimulating Hormone

Abstract Purpose Poor sleep and the accompanying TSH (Thyroid Stimulating Hormone) elevation are not uncommon since TSH secretion is controlled by the circadian rhythm. However, the true relationship between poor sleep and TSH elevation is unclear, and hence we aimed to elucidate this association by cross-sectional and longitudinal studies. Methods Participants with isolated elevated and normal TSH concentration were recruited, and the Pittsburgh Sleep Quality Index (PQSI) was used to assess sleep status. The patients with isolated TSH elevation were followed up longitudinally, and TSH levels were remeasured when sleep status improved. Results The proportion of poor sleep and occasional poor sleep among subjects with isolated TSH elevation was significantly higher than that in subjects with normal TSH (70.24% vs. 49.58%, p = 0.001; 9.52% vs. 1.68%, p = 0.006), and the ratio of good sleep was obviously decreased in subjects with isolated TSH elevation than normal TSH (20.24% vs. 48.74%, p < 0.001). Patients with isolated TSH elevation had significantly higher PSQI scores in the subjective sleep quality, sleep latency, sleep duration, and habitual sleep efficiency dimensions than subjects with normal TSH (all p < 0.05). In the follow-up study, among patients with isolated TSH elevation at baseline, the ratio of TSH normalization in patients who slept better was significantly higher than that in patients who still slept poorly (85.42% vs. 6.45%, p < 0.001). Conclusion This study revealed isolated elevated TSH concentrations tends to normalize when sleep status improves, and we recommend that clinicians inquire about sleep status thoroughly and reexamine thyroid hormone levels when sleep status improves.

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