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Selective pituitary resistance to thyroid hormone(PRTH)

MedGen UID:
333543
Concept ID:
C1840364
Disease or Syndrome
Synonyms: HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION; Thyroid hormone resistance, selective pituitary
SNOMED CT: Resistance to thyroid hormone beta (1260241001); Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta (1260241001); Resistance to thyroid hormone due to mutation in TRb (1260241001)
 
Gene (location): THRB (3p24.2)
 
Monarch Initiative: MONDO:0007784
OMIM®: 145650
Orphanet: ORPHA165994

Definition

Selective pituitary resistance to thyroid hormone (PRTH) results in continued thyroid-stimulating hormone (TSH) production driving hypersecretion of T3 and T4 to establish a new equilibrium, with high serum levels of free thyroid hormones together with a nonsuppressed TSH. The presence of a variety of thyrotoxic features, including palpitations, anxiety, tremor, heat intolerance, insomnia, weight loss, and increased stool frequency, suggests that peripheral tissues are less refractory to thyroid hormones than the pituitary (summary by Adams et al., 1994). [from OMIM]

Clinical features

From HPO
Hyperthyroidism
MedGen UID:
6972
Concept ID:
C0020550
Disease or Syndrome
An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
Elevated circulating thyroid-stimulating hormone concentration
MedGen UID:
108325
Concept ID:
C0586553
Finding
Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.
Generalized resistance to thyroid hormone
MedGen UID:
1654700
Concept ID:
C4722330
Disease or Syndrome
Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.

Professional guidelines

PubMed

Beck-Peccoz P, Mariotti S, Guillausseau PJ, Medri G, Piscitelli G, Bertoli A, Barbarino A, Rondena M, Chanson P, Pinchera A
J Clin Endocrinol Metab 1989 Jan;68(1):208-14. doi: 10.1210/jcem-68-1-208. PMID: 2491862

Recent clinical studies

Etiology

McDonald R, Kuhn K, Nguyen TB, Tannous A, Schauer I, Santoro N, Bradford AP
PLoS One 2022;17(5):e0268323. Epub 2022 May 11 doi: 10.1371/journal.pone.0268323. PMID: 35544473Free PMC Article
Macchia E, Lombardi M, Raffaelli V, Piaggi P, Macchia L, Scattina I, Martino E
Clin Endocrinol (Oxf) 2014 Dec;81(6):921-8. Epub 2014 Aug 14 doi: 10.1111/cen.12556. PMID: 25040256
Wartofsky L
Thyroid 1997 Apr;7(2):213-6. doi: 10.1089/thy.1997.7.213. PMID: 9133687
Sack J, Shafrir Y, Urbach D, Amado O
Pediatr Res 1985 Oct;19(10):1037-9. doi: 10.1203/00006450-198510000-00018. PMID: 3932951
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Diagnosis

Becker PC, Güth-Steffens M, Lazarow K, Sonntag N, Braun D, Masfaka I, Renko K, Schomburg L, Köhrle J, von Kries JP, Schweizer U, Krause G, Protze J
Thyroid 2024 Jul;34(7):920-930. Epub 2024 Jul 1 doi: 10.1089/thy.2023.0592. PMID: 38801167
Schorr M, Miller KK
Nat Rev Endocrinol 2017 Mar;13(3):174-186. Epub 2016 Nov 4 doi: 10.1038/nrendo.2016.175. PMID: 27811940Free PMC Article
Winter WE, Signorino MR
Ann Clin Lab Sci 2001 Jul;31(3):221-44. PMID: 11508826
Chatterjee VK
Acta Med Austriaca 1994;21(2):56-60. PMID: 7998483
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Therapy

McDonald R, Kuhn K, Nguyen TB, Tannous A, Schauer I, Santoro N, Bradford AP
PLoS One 2022;17(5):e0268323. Epub 2022 May 11 doi: 10.1371/journal.pone.0268323. PMID: 35544473Free PMC Article
Chanson P, Salenave S
Minerva Endocrinol 2004 Dec;29(4):241-75. PMID: 15765032
Wartofsky L
Thyroid 1997 Apr;7(2):213-6. doi: 10.1089/thy.1997.7.213. PMID: 9133687
McDermott MT, Ridgway EC
Am J Med 1993 Apr;94(4):424-32. doi: 10.1016/0002-9343(93)90155-i. PMID: 8475937
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Prognosis

Boldrini L, Faviana P, Galli L, Paolieri F, Erba PA, Bardi M
Genes (Basel) 2021 Aug 29;12(9) doi: 10.3390/genes12091350. PMID: 34573332Free PMC Article
Romano M, Della Porta MG, Gallì A, Panini N, Licandro SA, Bello E, Craparotta I, Rosti V, Bonetti E, Tancredi R, Rossi M, Mannarino L, Marchini S, Porcu L, Galmarini CM, Zambelli A, Zecca M, Locatelli F, Cazzola M, Biondi A, Rambaldi A, Allavena P, Erba E, D'Incalci M
Br J Cancer 2017 Jan;116(3):335-343. Epub 2017 Jan 10 doi: 10.1038/bjc.2016.424. PMID: 28072764Free PMC Article
Marzullo P, Minocci A, Tagliaferri MA, Guzzaloni G, Di Blasio A, De Medici C, Aimaretti G, Liuzzi A
J Clin Endocrinol Metab 2010 Aug;95(8):3965-72. Epub 2010 Jun 9 doi: 10.1210/jc.2009-2798. PMID: 20534769
Ouillette P, Erba H, Kujawski L, Kaminski M, Shedden K, Malek SN
Cancer Res 2008 Feb 15;68(4):1012-21. doi: 10.1158/0008-5472.CAN-07-3105. PMID: 18281475
Dundar B, Bober E, Büyükgebiz A
J Pediatr Endocrinol Metab 2003 Sep;16(7):1051-6. doi: 10.1515/jpem.2003.16.7.1051. PMID: 14513884

Clinical prediction guides

Becker PC, Güth-Steffens M, Lazarow K, Sonntag N, Braun D, Masfaka I, Renko K, Schomburg L, Köhrle J, von Kries JP, Schweizer U, Krause G, Protze J
Thyroid 2024 Jul;34(7):920-930. Epub 2024 Jul 1 doi: 10.1089/thy.2023.0592. PMID: 38801167
Boldrini L, Faviana P, Galli L, Paolieri F, Erba PA, Bardi M
Genes (Basel) 2021 Aug 29;12(9) doi: 10.3390/genes12091350. PMID: 34573332Free PMC Article
Marzullo P, Minocci A, Tagliaferri MA, Guzzaloni G, Di Blasio A, De Medici C, Aimaretti G, Liuzzi A
J Clin Endocrinol Metab 2010 Aug;95(8):3965-72. Epub 2010 Jun 9 doi: 10.1210/jc.2009-2798. PMID: 20534769
Van den Berghe G, de Zegher F
Crit Care Med 1996 Sep;24(9):1580-90. doi: 10.1097/00003246-199609000-00024. PMID: 8797634
Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK
J Clin Invest 1994 Aug;94(2):506-15. doi: 10.1172/JCI117362. PMID: 8040303Free PMC Article

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