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Thyroid hormone metabolism, abnormal 1(THMA1)

MedGen UID:: 1801974
•Concept ID:: C5676891
•: Finding

Synonyms:	Short stature-delayed bone age due to thyroid hormone metabolism deficiency; THMA1
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	SECISBP2 (9q22.2)

Monarch Initiative:	MONDO:0800046
OMIM®:	609698
Orphanet:	ORPHA171706

Definition

Abnormal thyroid hormone metabolism-1 (THMA1) is characterized by multiorgan defects, including abnormal thyroid hormone metabolism, myopathy, hearing loss, and male infertility (summary by Catli et al., 2018). Genetic Heterogeneity of Abnormal Thyroid Hormone Metabolism THMA2 (619855) is caused by mutation in the DIO1 gene (147892) on chromosome 1p32. THMA3 (620198) is caused by mutation in the TRU-TCA1-1 gene (165060) on chromosome 19q13. [from OMIM]

Clinical features

From HPO

Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Delayed skeletal maturation

MedGen UID:: 108148
•Concept ID:: C0541764
•: Finding

A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.

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Hypothyroidism

MedGen UID:: 6991
•Concept ID:: C0020676
•: Disease or Syndrome

Deficiency of thyroid hormone.

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Elevated circulating thyroid-stimulating hormone concentration

MedGen UID:: 108325
•Concept ID:: C0586553
•: Finding

Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.

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Increased circulating T4 concentration

MedGen UID:: 1619052
•Concept ID:: C4531079
•: Finding

An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).

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Decreased circulating free T3

MedGen UID:: 1687899
•Concept ID:: C5139195
•: Finding

A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.

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Increased circulating free T4 concentration

MedGen UID:: 1771990
•Concept ID:: C5421591
•: Finding

An elevated concentration of free thyroxine (fT4) in the blood circulation.

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Abnormality of the endocrine system
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVThyroid hormone metabolism, abnormal 1

Syndrome of reduced sensitivity to thyroid hormone
- Thyroid hormone metabolism, abnormal 1

Professional guidelines

PubMed

Amenorrhea: A Systematic Approach to Diagnosis and Management.

Klein DA, Paradise SL, Reeder RM
Am Fam Physician 2019 Jul 1;100(1):39-48. PMID: 31259490

Laboratory Testing in Thyroid Conditions - Pitfalls and Clinical Utility.

Soh SB, Aw TC
Ann Lab Med 2019 Jan;39(1):3-14. doi: 10.3343/alm.2019.39.1.3. PMID: 30215224 Free PMC Article

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, Zhang MM, Yang L, Zhang QY, Liu W, Guo CC, Chen G, Zhao SX, Song KY, Song HD
Eur J Endocrinol 2018 Jun;178(6):623-633. Epub 2018 Apr 12 doi: 10.1530/EJE-17-1017. PMID: 29650690 Free PMC Article

See all (127)

Recent clinical studies

Etiology

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: 31144547 Free PMC Article

Congenital Hypothyroidism.

Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999

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

Coregulator-related diseases.

Yanase T, Adachi M, Goto K, Takayanagi R, Nawata H
Intern Med 2004 May;43(5):368-73. doi: 10.2169/internalmedicine.43.368. PMID: 15206547

See all (1203)

Diagnosis

Laboratory Testing in Thyroid Conditions - Pitfalls and Clinical Utility.

Soh SB, Aw TC
Ann Lab Med 2019 Jan;39(1):3-14. doi: 10.3343/alm.2019.39.1.3. PMID: 30215224 Free PMC Article

Congenital Hypothyroidism.

Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999

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

Coregulator-related diseases.

Yanase T, Adachi M, Goto K, Takayanagi R, Nawata H
Intern Med 2004 May;43(5):368-73. doi: 10.2169/internalmedicine.43.368. PMID: 15206547

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

See all (940)

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: 34671932 Free 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: 31144547 Free PMC Article

Congenital Hypothyroidism.

Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999

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

Triiodothyronine in cardiac surgery.

Broderick TJ, Wechsler AS
Thyroid 1997 Feb;7(1):133-7. doi: 10.1089/thy.1997.7.133. PMID: 9086581

See all (785)

Prognosis

Cardiac Amyloidosis Due to Transthyretin Protein: A Review.

Ruberg FL, Maurer MS
JAMA 2024 Mar 5;331(9):778-791. doi: 10.1001/jama.2024.0442. PMID: 38441582 Free 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: 31144547 Free PMC Article

Congenital Hypothyroidism.

Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999

Congenital hypothyroidism.

Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182 Free PMC Article

See all (487)

Clinical prediction guides

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: 35255260 Free 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: 31144547 Free 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

Coregulator-related diseases.

Yanase T, Adachi M, Goto K, Takayanagi R, Nawata H
Intern Med 2004 May;43(5):368-73. doi: 10.2169/internalmedicine.43.368. PMID: 15206547

PIT1 abnormality.

Tatsumi K, Amino N
Growth Horm IGF Res 1999 Jun;9 Suppl B:18-22; discussion 23. doi: 10.1016/s1096-6374(99)80076-8. PMID: 10549301

See all (749)

Recent systematic reviews

Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up.

Carmona-Hidalgo B, Herrera-Ramos E, Rodríguez-López R, Nou-Fontanet L, C Moreno J, Blasco-Amaro JA, Léger J, Ortigoza-Escobar JD; NKX2-1-Related Disorders Guideline Working Group
PLoS One 2024;19(10):e0309064. Epub 2024 Oct 28 doi: 10.1371/journal.pone.0309064. PMID: 39466809 Free PMC Article

Association between maternal thyroid function and risk of gestational hypertension and pre-eclampsia: a systematic review and individual-participant data meta-analysis.

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: 32445737 Free PMC Article

Thyroid Hormone (Triiodothyronine) Therapy in Children After Congenital Heart Surgery: A Meta-Analysis.

Flores S, Loomba RS, Checchia PA, Graham EM, Bronicki RA
Semin Thorac Cardiovasc Surg 2020 Spring;32(1):87-95. Epub 2019 May 22 doi: 10.1053/j.semtcvs.2019.05.020. PMID: 31128253

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: 31429897 Free PMC Article

See all (15)

MedGen

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Thyroid hormone metabolism, abnormal 1(THMA1)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

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