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Abnormality of the thyroid gland

MedGen UID:
1378579
Concept ID:
C4317107
Finding
Synonyms: disease of thyroid gland; disease or disorder of thyroid gland; disorder of thyroid gland; Thyroid abnormality; Thyroid disease; thyroid disease; thyroid gland disease; thyroid gland disease or disorder; thyroid gland diseases; thyroid gland disorder; thyroid gland disorders
 
HPO: HP:0000820
Monarch Initiative: MONDO:0003240

Definition

An abnormality of the thyroid gland. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the thyroid gland

Conditions with this feature

Smith-Magenis syndrome
MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
MedGen UID:
373087
Concept ID:
C1836439
Disease or Syndrome
Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene (174763) is associated with more complicated phenotypes than PEO caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002).

Professional guidelines

PubMed

Reidelberger K, Fingeret A
Surg Clin North Am 2021 Dec;101(6):1081-1096. doi: 10.1016/j.suc.2021.06.006. PMID: 34774270
Klein DA, Paradise SL, Reeder RM
Am Fam Physician 2019 Jul 1;100(1):39-48. PMID: 31259490
Kaplowitz PB
Pediatr Clin North Am 2019 Apr;66(2):343-352. Epub 2019 Jan 28 doi: 10.1016/j.pcl.2018.12.005. PMID: 30819341

Curated

UK NICE Guideline NG145, Thyroid disease: assessment and management, 2023

Recent clinical studies

Etiology

De Sanctis V, Soliman AT, Di Maio S, Elsedfy H, Soliman NA, Elalaily R
Pediatr Endocrinol Rev 2016 Mar;13(3):612-9. PMID: 27116848
Oguz A, Tuzun D, Ozdemir E, Ersoy R, Yazgan AK, Cakir B
Arch Endocrinol Metab 2015 Aug 28;60(3):231-5. doi: 10.1590/2359-3997000000073. PMID: 26331224Free PMC Article
Berker D, Ozuguz U, Isik S, Aydin Y, Ates Tutuncu Y, Akbaba G, Guler S
Swiss Med Wkly 2010 Feb 20;140(7-8):118-21. doi: 10.4414/smw.2010.12956. PMID: 20033860
O'Connell M, Grixti M, Harmer C
Clin Oncol (R Coll Radiol) 1998;10(3):186-90. doi: 10.1016/s0936-6555(98)80066-6. PMID: 9704182
Reiter EO, Root AW, Rettig K, Vargas A
J Pediatr 1981 Oct;99(4):507-18. doi: 10.1016/s0022-3476(81)80245-4. PMID: 7024497

Diagnosis

De Sanctis V, Soliman AT, Di Maio S, Elsedfy H, Soliman NA, Elalaily R
Pediatr Endocrinol Rev 2016 Mar;13(3):612-9. PMID: 27116848
Berker D, Ozuguz U, Isik S, Aydin Y, Ates Tutuncu Y, Akbaba G, Guler S
Swiss Med Wkly 2010 Feb 20;140(7-8):118-21. doi: 10.4414/smw.2010.12956. PMID: 20033860
Ralls PW, Mayekawa DS, Lee KP, Colletti PM, Radin DR, Boswell WD, Halls JM
AJR Am J Roentgenol 1988 Apr;150(4):781-4. doi: 10.2214/ajr.150.4.781. PMID: 3279732
Reiter EO, Root AW, Rettig K, Vargas A
J Pediatr 1981 Oct;99(4):507-18. doi: 10.1016/s0022-3476(81)80245-4. PMID: 7024497
Asirwatham JE, Barcos M, Shimaoka K
J Med 1979;10(3):197-206. PMID: 289718

Therapy

O'Connell M, Grixti M, Harmer C
Clin Oncol (R Coll Radiol) 1998;10(3):186-90. doi: 10.1016/s0936-6555(98)80066-6. PMID: 9704182
Reiter EO, Root AW, Rettig K, Vargas A
J Pediatr 1981 Oct;99(4):507-18. doi: 10.1016/s0022-3476(81)80245-4. PMID: 7024497

Prognosis

O'Connell M, Grixti M, Harmer C
Clin Oncol (R Coll Radiol) 1998;10(3):186-90. doi: 10.1016/s0936-6555(98)80066-6. PMID: 9704182

Clinical prediction guides

Falvo L, Giacomelli L, Vanni B, Marzollo A, Guerriero G, De Antoni E
Int Surg 2006 May-Jun;91(3):141-6. PMID: 16845854

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Guideline NG145, Thyroid disease: assessment and management, 2023

    Consumer resources

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