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Thyroid hormone metabolism, abnormal, 2(THMA2)

MedGen UID:
1812066
•Concept ID:
C5676976
•
Finding
Synonym: THMA2
 
Gene (location): DIO1 (1p32.3)
 
Monarch Initiative: MONDO:0030839
OMIM®: 619855

Definition

Abnormal thyroid hormone metabolism-2 (THMA2) is characterized by elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios. Some patients exhibit resistance to thyroid-stimulating hormone (TSH; see 188540) with mildly elevated TSH levels, and elevated cholesterol levels have been observed (Franca et al., 2021). For a discussion of genetic heterogeneity of abnormal thyroid hormone metabolism, see THMA1 (609698). [from OMIM]

Clinical features

From HPO
Hypercholesterolemia
MedGen UID:
5687
•Concept ID:
C0020443
•
Disease or Syndrome
An increased concentration of cholesterol in the blood.
See: Feature record | Search on this feature
Elevated circulating reverse T3 concentration
MedGen UID:
1815050
•Concept ID:
C5706144
•
Finding
Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation.
See: Feature record | Search on this feature
Elevated circulating rT3/T3 ratio
MedGen UID:
1815051
•Concept ID:
C5706145
•
Finding
An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Disorders of Puberty: An Approach to Diagnosis and Management.
Klein DA, Emerick JE, Sylvester JE, Vogt KS
Am Fam Physician 2017 Nov 1;96(9):590-599. PMID: 29094880
Inositol as putative integrative treatment for PCOS.
Genazzani AD
Reprod Biomed Online 2016 Dec;33(6):770-780. Epub 2016 Sep 16 doi: 10.1016/j.rbmo.2016.08.024. PMID: 27717596
Amenorrhea: an approach to diagnosis and management.
Klein DA, Poth MA
Am Fam Physician 2013 Jun 1;87(11):781-8. PMID: 23939500

Recent clinical studies

Etiology

Thyroid Hormone Signaling and the Liver.
Ritter MJ, Amano I, Hollenberg AN
Hepatology 2020 Aug;72(2):742-752. doi: 10.1002/hep.31296. PMID: 32343421
Effects of thyroid hormone and depression on common components of central obesity.
Du FM, Kuang HY, Duan BH, Liu DN, Yu XY
J Int Med Res 2019 Jul;47(7):3040-3049. Epub 2019 May 30 doi: 10.1177/0300060519851624. PMID: 31144547Free PMC Article
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH, Williams GR
Endocr Rev 2016 Apr;37(2):135-87. Epub 2016 Feb 10 doi: 10.1210/er.2015-1106. PMID: 26862888Free PMC Article
Desmosterol and DHCR24: unexpected new directions for a terminal step in cholesterol synthesis.
Zerenturk EJ, Sharpe LJ, Ikonen E, Brown AJ
Prog Lipid Res 2013 Oct;52(4):666-80. Epub 2013 Oct 2 doi: 10.1016/j.plipres.2013.09.002. PMID: 24095826
Overt and subclinical hypothyroidism: who to treat and how.
Khandelwal D, Tandon N
Drugs 2012 Jan 1;72(1):17-33. doi: 10.2165/11598070-000000000-00000. PMID: 22191793

Diagnosis

Polycystic ovary syndrome and thyroid disorder: a comprehensive narrative review of the literature.
Palomba S, Colombo C, Busnelli A, Caserta D, Vitale G
Front Endocrinol (Lausanne) 2023;14:1251866. Epub 2023 Aug 11 doi: 10.3389/fendo.2023.1251866. PMID: 37635968Free PMC Article
Inositol as putative integrative treatment for PCOS.
Genazzani AD
Reprod Biomed Online 2016 Dec;33(6):770-780. Epub 2016 Sep 16 doi: 10.1016/j.rbmo.2016.08.024. PMID: 27717596
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH, Williams GR
Endocr Rev 2016 Apr;37(2):135-87. Epub 2016 Feb 10 doi: 10.1210/er.2015-1106. PMID: 26862888Free PMC Article
Molecular aspects of thyroid hormone actions.
Cheng SY, Leonard JL, Davis PJ
Endocr Rev 2010 Apr;31(2):139-70. Epub 2010 Jan 5 doi: 10.1210/er.2009-0007. PMID: 20051527Free PMC Article
The Colorado thyroid disease prevalence study.
Canaris GJ, Manowitz NR, Mayor G, Ridgway EC
Arch Intern Med 2000 Feb 28;160(4):526-34. doi: 10.1001/archinte.160.4.526. PMID: 10695693

Therapy

Factors influencing the levothyroxine dose in the hormone replacement therapy of primary hypothyroidism in adults.
Caron P, Grunenwald S, Persani L, Borson-Chazot F, Leroy R, Duntas L
Rev Endocr Metab Disord 2022 Jun;23(3):463-483. Epub 2021 Oct 20 doi: 10.1007/s11154-021-09691-9. PMID: 34671932Free PMC Article
MANAGEMENT OF ENDOCRINE DISEASE Subclinical hypothyroidism in children.
Salerno M, Improda N, Capalbo D
Eur J Endocrinol 2020 Aug;183(2):R13-R28. doi: 10.1530/EJE-20-0051. PMID: 32580145
Effects of thyroid hormone and depression on common components of central obesity.
Du FM, Kuang HY, Duan BH, Liu DN, Yu XY
J Int Med Res 2019 Jul;47(7):3040-3049. Epub 2019 May 30 doi: 10.1177/0300060519851624. PMID: 31144547Free PMC Article
Inositol as putative integrative treatment for PCOS.
Genazzani AD
Reprod Biomed Online 2016 Dec;33(6):770-780. Epub 2016 Sep 16 doi: 10.1016/j.rbmo.2016.08.024. PMID: 27717596
Overt and subclinical hypothyroidism: who to treat and how.
Khandelwal D, Tandon N
Drugs 2012 Jan 1;72(1):17-33. doi: 10.2165/11598070-000000000-00000. PMID: 22191793

Prognosis

COVID-19 and thyroid function: What do we know so far?
Rossetti CL, Cazarin J, Hecht F, Beltrão FEL, Ferreira ACF, Fortunato RS, Ramos HE, de Carvalho DP
Front Endocrinol (Lausanne) 2022;13:1041676. Epub 2022 Dec 19 doi: 10.3389/fendo.2022.1041676. PMID: 36601011Free PMC Article
Thyroidectomy without Radioiodine in Patients with Low-Risk Thyroid Cancer.
Leboulleux S, Bournaud C, Chougnet CN, Zerdoud S, Al Ghuzlan A, Catargi B, Do Cao C, Kelly A, Barge ML, Lacroix L, Dygai I, Vera P, Rusu D, Schneegans O, Benisvy D, Klein M, Roux J, Eberle MC, Bastie D, Nascimento C, Giraudet AL, Le Moullec N, Bardet S, Drui D, Roudaut N, Godbert Y, Morel O, Drutel A, Lamartina L, Schvartz C, Velayoudom FL, Schlumberger MJ, Leenhardt L, Borget I
N Engl J Med 2022 Mar 10;386(10):923-932. doi: 10.1056/NEJMoa2111953. PMID: 35263518
Effects of thyroid hormone and depression on common components of central obesity.
Du FM, Kuang HY, Duan BH, Liu DN, Yu XY
J Int Med Res 2019 Jul;47(7):3040-3049. Epub 2019 May 30 doi: 10.1177/0300060519851624. PMID: 31144547Free PMC Article
Congenital hypothyroidism.
Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182Free PMC Article
Thyroid function and bipolar affective disorder.
Joffe RT, Kutcher S, MacDonald C
Psychiatry Res 1988 Aug;25(2):117-21. doi: 10.1016/0165-1781(88)90042-x. PMID: 3140257

Clinical prediction guides

COVID-19 and thyroid function: What do we know so far?
Rossetti CL, Cazarin J, Hecht F, Beltrão FEL, Ferreira ACF, Fortunato RS, Ramos HE, de Carvalho DP
Front Endocrinol (Lausanne) 2022;13:1041676. Epub 2022 Dec 19 doi: 10.3389/fendo.2022.1041676. PMID: 36601011Free PMC Article
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J
Orphanet J Rare Dis 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. PMID: 35821070Free PMC Article
Association between maternal thyroid function and risk of gestational hypertension and pre-eclampsia: a systematic review and individual-participant data meta-analysis.
Toloza FJK, Derakhshan A, Männistö T, Bliddal S, Popova PV, Carty DM, Chen L, Taylor P, Mosso L, Oken E, Suvanto E, Itoh S, Kishi R, Bassols J, Auvinen J, López-Bermejo A, Brown SJ, Boucai L, Hisada A, Yoshinaga J, Shilova E, Grineva EN, Vrijkotte TGM, Sunyer J, Jiménez-Zabala A, Riaño-Galan I, Lopez-Espinosa MJ, Prokop LJ, Singh Ospina N, Brito JP, Rodriguez-Gutierrez R, Alexander EK, Chaker L, Pearce EN, Peeters RP, Feldt-Rasmussen U, Guxens M, Chatzi L, Delles C, Roeters van Lennep JE, Pop VJM, Lu X, Walsh JP, Nelson SM, Korevaar TIM, Maraka S
Lancet Diabetes Endocrinol 2022 Apr;10(4):243-252. Epub 2022 Mar 4 doi: 10.1016/S2213-8587(22)00007-9. PMID: 35255260Free PMC Article
Effects of thyroid hormone and depression on common components of central obesity.
Du FM, Kuang HY, Duan BH, Liu DN, Yu XY
J Int Med Res 2019 Jul;47(7):3040-3049. Epub 2019 May 30 doi: 10.1177/0300060519851624. PMID: 31144547Free PMC Article
Pendred syndrome.
Wémeau JL, Kopp P
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):213-224. Epub 2017 May 10 doi: 10.1016/j.beem.2017.04.011. PMID: 28648509

Recent systematic reviews

Association between maternal thyroid function and risk of gestational hypertension and pre-eclampsia: a systematic review and individual-participant data meta-analysis.
Toloza FJK, Derakhshan A, Männistö T, Bliddal S, Popova PV, Carty DM, Chen L, Taylor P, Mosso L, Oken E, Suvanto E, Itoh S, Kishi R, Bassols J, Auvinen J, López-Bermejo A, Brown SJ, Boucai L, Hisada A, Yoshinaga J, Shilova E, Grineva EN, Vrijkotte TGM, Sunyer J, Jiménez-Zabala A, Riaño-Galan I, Lopez-Espinosa MJ, Prokop LJ, Singh Ospina N, Brito JP, Rodriguez-Gutierrez R, Alexander EK, Chaker L, Pearce EN, Peeters RP, Feldt-Rasmussen U, Guxens M, Chatzi L, Delles C, Roeters van Lennep JE, Pop VJM, Lu X, Walsh JP, Nelson SM, Korevaar TIM, Maraka S
Lancet Diabetes Endocrinol 2022 Apr;10(4):243-252. Epub 2022 Mar 4 doi: 10.1016/S2213-8587(22)00007-9. PMID: 35255260Free PMC Article
Association of maternal thyroid function with birthweight: a systematic review and individual-participant data meta-analysis.
Derakhshan A, Peeters RP, Taylor PN, Bliddal S, Carty DM, Meems M, Vaidya B, Chen L, Knight BA, Ghafoor F, Popova PV, Mosso L, Oken E, Suvanto E, Hisada A, Yoshinaga J, Brown SJ, Bassols J, Auvinen J, Bramer WM, López-Bermejo A, Dayan CM, French R, Boucai L, Vafeiadi M, Grineva EN, Pop VJM, Vrijkotte TG, Chatzi L, Sunyer J, Jiménez-Zabala A, Riaño I, Rebagliato M, Lu X, Pirzada A, Männistö T, Delles C, Feldt-Rasmussen U, Alexander EK, Nelson SM, Chaker L, Pearce EN, Guxens M, Steegers EAP, Walsh JP, Korevaar TIM
Lancet Diabetes Endocrinol 2020 Jun;8(6):501-510. doi: 10.1016/S2213-8587(20)30061-9. PMID: 32445737Free PMC Article
Association of Thyroid Function Test Abnormalities and Thyroid Autoimmunity With Preterm Birth: A Systematic Review and Meta-analysis.
Consortium on Thyroid and Pregnancy—Study Group on Preterm Birth, Korevaar TIM, Derakhshan A, Taylor PN, Meima M, Chen L, Bliddal S, Carty DM, Meems M, Vaidya B, Shields B, Ghafoor F, Popova PV, Mosso L, Oken E, Suvanto E, Hisada A, Yoshinaga J, Brown SJ, Bassols J, Auvinen J, Bramer WM, López-Bermejo A, Dayan C, Boucai L, Vafeiadi M, Grineva EN, Tkachuck AS, Pop VJM, Vrijkotte TG, Guxens M, Chatzi L, Sunyer J, Jiménez-Zabala A, Riaño I, Murcia M, Lu X, Mukhtar S, Delles C, Feldt-Rasmussen U, Nelson SM, Alexander EK, Chaker L, Männistö T, Walsh JP, Pearce EN, Steegers EAP, Peeters RP
JAMA 2019 Aug 20;322(7):632-641. doi: 10.1001/jama.2019.10931. PMID: 31429897Free PMC Article
Is dietary nitrate/nitrite exposure a risk factor for development of thyroid abnormality? A systematic review and meta-analysis.
Bahadoran Z, Mirmiran P, Ghasemi A, Kabir A, Azizi F, Hadaegh F
Nitric Oxide 2015 May 1;47:65-76. Epub 2015 Apr 15 doi: 10.1016/j.niox.2015.04.002. PMID: 25889269
Thyroid function during ovarian stimulation: a systematic review.
Mintziori G, Goulis DG, Toulis KA, Venetis CA, Kolibianakis EM, Tarlatzis BC
Fertil Steril 2011 Sep;96(3):780-5. Epub 2011 Jul 13 doi: 10.1016/j.fertnstert.2011.06.020. PMID: 21742326

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