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Elevated circulating thyroid-stimulating hormone concentration

MedGen UID:
108325
Concept ID:
C0586553
Finding
Synonym: Increased thyroid-stimulating hormone level
SNOMED CT: Raised thyroid stimulating hormone level (309080005); Thyroid stimulating hormone level above reference range (309080005); Raised TSH (thyroid stimulating hormone) level (309080005)
 
HPO: HP:0002925

Definition

Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating thyroid-stimulating hormone concentration

Conditions with this feature

Woodhouse-Sakati syndrome
MedGen UID:
83337
Concept ID:
C0342286
Disease or Syndrome
Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. More than half of individuals have the neurologic findings of progressive extrapyramidal movements (dystonic spasms with dystonic posturing with dysarthria and dysphagia), moderate bilateral postlingual sensorineural hearing loss, and mild intellectual disability. To date, more than 40 families (including 33 with a molecularly confirmed diagnosis) with a total of 88 affected individuals have been reported in the literature.
Allan-Herndon-Dudley syndrome
MedGen UID:
208645
Concept ID:
C0795889
Disease or Syndrome
Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathetosis, paroxysmal movement disorder, hypokinesia, masked facies), and seizures, often with drug resistance. Additional findings can include dysthyroidism (manifest as poor weight gain, reduced muscle mass, and variable cold intolerance, sweating, elevated heart rate, and irritability) and pathognomonic thyroid test results. Most heterozygous females are not clinically affected but may have minor thyroid test abnormalities.
Schimke immuno-osseous dysplasia
MedGen UID:
164078
Concept ID:
C0877024
Congenital Abnormality
Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T-cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T-cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated.
Selective pituitary resistance to thyroid hormone
MedGen UID:
333543
Concept ID:
C1840364
Disease or Syndrome
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).
Bamforth-Lazarus syndrome
MedGen UID:
343420
Concept ID:
C1855794
Disease or Syndrome
Bamforth-Lazarus syndrome (BAMLAZ) is a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, and spiky hair, with or without choanal atresia or bifid epiglottis (summary by Sarma et al., 2022).
Neonatal diabetes mellitus with congenital hypothyroidism
MedGen UID:
347541
Concept ID:
C1857775
Disease or Syndrome
Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay (Dimitri et al., 2015).
Acroosteolysis-keloid-like lesions-premature aging syndrome
MedGen UID:
400936
Concept ID:
C1866182
Disease or Syndrome
Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).
Hypothyroidism, congenital, nongoitrous, 2
MedGen UID:
358389
Concept ID:
C1869118
Congenital Abnormality
Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.
Brain-lung-thyroid syndrome
MedGen UID:
369694
Concept ID:
C1970269
Disease or Syndrome
NKX2-1-related disorders range from benign hereditary chorea (BHC) to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (also known as brain-lung-thyroid syndrome). Childhood-onset chorea, the hallmark of NKX2-1-related disorders, may or may not be associated with respiratory distress syndrome or congenital hypothyroidism. Chorea generally begins in early infancy or about age one year (most commonly) or in late childhood or adolescence, and progresses into the second decade after which it remains static or (rarely) remits. Pulmonary disease, the second most common manifestation, can include respiratory distress syndrome in neonates, interstitial lung disease in young children, and pulmonary fibrosis in older persons. The risk for pulmonary carcinoma is increased in young adults with an NKX2-1-related disorder. Thyroid dysfunction, the result of dysembryogenesis, can present as congenital hypothyroidism or compensated hypothyroidism. The risk for thyroid cancer is unknown and may not be increased. In one review, 50% of affected individuals had the full brain-lung-thyroid syndrome, 30% had involvement of brain and thyroid only, and 13% had isolated chorea only.
Hypothyroidism, congenital, nongoitrous, 5
MedGen UID:
388687
Concept ID:
C2673630
Disease or Syndrome
Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.
Pseudohypoparathyroidism type 1C
MedGen UID:
420958
Concept ID:
C2932716
Disease or Syndrome
Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.
Chromosome 14q11-q22 deletion syndrome
MedGen UID:
462057
Concept ID:
C3150707
Disease or Syndrome
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Acrodysostosis 1 with or without hormone resistance
MedGen UID:
477858
Concept ID:
C3276228
Disease or Syndrome
Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of Acrodysostosis See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.
Thyroid hormone resistance, generalized, autosomal recessive
MedGen UID:
483749
Concept ID:
C3489796
Disease or Syndrome
A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.
Hypothyroidism due to TSH receptor mutations
MedGen UID:
487729
Concept ID:
C3493776
Disease or Syndrome
Resistance to thyroid-stimulating hormone (TSH; see 188540), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous Hypothyroidism Also see CHNG2 (218700), caused by mutation in the PAX8 gene (167415) on chromosome 2q14; CHNG3 (609893), caused by mutation in the STRTS short tandem repeat (620900) on chromosome 15q26.1; CHNG4 (275100), caused by mutation in the TSHB gene (188540) on chromosome 1p13; CHNG5 (225250), caused by mutation in the NKX2-5 gene (600584) on chromosome 5q35; CHNG6 (614450), caused by mutation in the THRA gene (190120) on chromosome 17q21; CHNG7 (618573), caused by mutation in the TRHR gene (188545) on chromosome 8q24; CHNG8 (301033), caused by mutation in the TBL1X gene (300196) on chromosome Xp22; and CHNG9 (301035), caused by mutation in the IRS4 gene (300904) on chromosome Xq22.
Combined oxidative phosphorylation deficiency 34
MedGen UID:
1631307
Concept ID:
C4693450
Disease or Syndrome
COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Proteasome-associated autoinflammatory syndrome 1
MedGen UID:
1648310
Concept ID:
C4746851
Disease or Syndrome
Proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is an autosomal recessive disorder characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22; and PRAAS6 (620796), caused by mutation in the PSMB9 gene (177045) on chromosome 6p21.
Diarrhea 10, protein-losing enteropathy type
MedGen UID:
1648311
Concept ID:
C4748579
Disease or Syndrome
Diarrhea-10 (DIAR10) is a protein-losing enteropathy characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients (Broekaert et al., 2018; Kurolap et al., 2018). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).
Thyroid hormone metabolism, abnormal 1
MedGen UID:
1801974
Concept ID:
C5676891
Finding
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.
Atelis syndrome 2
MedGen UID:
1824055
Concept ID:
C5774282
Disease or Syndrome
Atelis syndrome-2 (ATELS2) is an autosomal recessive disorder characterized by poor overall growth with microcephaly and short stature, dysmorphic facial features, and congenital cardiac defects. Additional more variable features may include hematologic abnormalities, variable ocular abnormalities, motor delay, and anxiety. Patient cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy (Grange et al., 2022). See also ATELS1 (620184), caused by mutation in the SLF2 gene (610348). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).
Hyperinsulinemic hypoglycemia, familial, 8
MedGen UID:
1824072
Concept ID:
C5774299
Disease or Syndrome
Familial hyperinsulinemic hypoglycemia-8 (HHF8) is an autosomal recessive disorder characterized by protein-related hypoglycemia and persistent mild hyperammonemia (summary by Shahroor et al., 2022). For a phenotypic description and a discussion of genetic heterogeneity of familial hyperinsulinemic hypoglycemia, see HHF1 (256450).

Professional guidelines

PubMed

Mysliwiec J, Palyga I, Nikolajuk A, Kowalska A, Gorska M
Endokrynol Pol 2012;63(2):92-6. PMID: 22538746
Burmeister LA, Goumaz MO, Mariash CN, Oppenheimer JH
J Clin Endocrinol Metab 1992 Aug;75(2):344-50. doi: 10.1210/jcem.75.2.1639933. PMID: 1639933

Recent clinical studies

Etiology

Krysiak R, Kowalcze K, Okopień B
Pharmacology 2023;108(3):245-254. Epub 2023 Feb 15 doi: 10.1159/000528939. PMID: 36791677Free PMC Article
Zheng D, Liao H, Chen S, Liu X, Mao C, Zhang C, Meng M, Wang Z, Wang Y, Jiang Q, Xue Y, Zhou L, Chen Y
Front Endocrinol (Lausanne) 2021;12:796212. Epub 2021 Dec 16 doi: 10.3389/fendo.2021.796212. PMID: 34975767Free PMC Article
Liu D, Zhang P, Wei X, Deng Y, Liu W, Guo D, Liu J, Xu B, Huang C, Huang J, Lin J, Liu S, Xue Y, Zhang H
Front Endocrinol (Lausanne) 2020;11:580097. Epub 2020 Sep 29 doi: 10.3389/fendo.2020.580097. PMID: 33117292Free PMC Article
Biondi B, Cappola AR, Cooper DS
JAMA 2019 Jul 9;322(2):153-160. doi: 10.1001/jama.2019.9052. PMID: 31287527
Ayala AR, Danese MD, Ladenson PW
Endocrinol Metab Clin North Am 2000 Jun;29(2):399-415. doi: 10.1016/s0889-8529(05)70139-0. PMID: 10874537

Diagnosis

Szeliga K, Antosz A, Skrzynska K, Kalina-Faska B, Gawlik A
Pediatr Endocrinol Diabetes Metab 2023;29(2):97-103. doi: 10.5114/pedm.2023.124266. PMID: 37728461Free PMC Article
Krysiak R, Szkróbka W, Bednarska-Czerwińska A, Okopień B
Fundam Clin Pharmacol 2021 Apr;35(2):466-472. Epub 2020 Sep 10 doi: 10.1111/fcp.12600. PMID: 32813271
Liu D, Zhang P, Wei X, Deng Y, Liu W, Guo D, Liu J, Xu B, Huang C, Huang J, Lin J, Liu S, Xue Y, Zhang H
Front Endocrinol (Lausanne) 2020;11:580097. Epub 2020 Sep 29 doi: 10.3389/fendo.2020.580097. PMID: 33117292Free PMC Article
Langouche L, Lehmphul I, Perre SV, Köhrle J, Van den Berghe G
Thyroid 2016 Dec;26(12):1674-1680. Epub 2016 Oct 25 doi: 10.1089/thy.2016.0214. PMID: 27676423
Ayala AR, Danese MD, Ladenson PW
Endocrinol Metab Clin North Am 2000 Jun;29(2):399-415. doi: 10.1016/s0889-8529(05)70139-0. PMID: 10874537

Therapy

van Heemst D
Nat Rev Endocrinol 2024 Jan;20(1):5-15. Epub 2023 Nov 3 doi: 10.1038/s41574-023-00911-7. PMID: 37923847
Krysiak R, Kowalcze K, Okopień B
Pharmacology 2023;108(3):245-254. Epub 2023 Feb 15 doi: 10.1159/000528939. PMID: 36791677Free PMC Article
Krysiak R, Szkróbka W, Bednarska-Czerwińska A, Okopień B
Fundam Clin Pharmacol 2021 Apr;35(2):466-472. Epub 2020 Sep 10 doi: 10.1111/fcp.12600. PMID: 32813271
Biondi B, Cappola AR, Cooper DS
JAMA 2019 Jul 9;322(2):153-160. doi: 10.1001/jama.2019.9052. PMID: 31287527
Lim VS
Am J Kidney Dis 2001 Oct;38(4 Suppl 1):S80-4. doi: 10.1053/ajkd.2001.27410. PMID: 11576928

Prognosis

Szeliga K, Antosz A, Skrzynska K, Kalina-Faska B, Gawlik A
Pediatr Endocrinol Diabetes Metab 2023;29(2):97-103. doi: 10.5114/pedm.2023.124266. PMID: 37728461Free PMC Article
Zheng D, Liao H, Chen S, Liu X, Mao C, Zhang C, Meng M, Wang Z, Wang Y, Jiang Q, Xue Y, Zhou L, Chen Y
Front Endocrinol (Lausanne) 2021;12:796212. Epub 2021 Dec 16 doi: 10.3389/fendo.2021.796212. PMID: 34975767Free PMC Article
Liu D, Zhang P, Wei X, Deng Y, Liu W, Guo D, Liu J, Xu B, Huang C, Huang J, Lin J, Liu S, Xue Y, Zhang H
Front Endocrinol (Lausanne) 2020;11:580097. Epub 2020 Sep 29 doi: 10.3389/fendo.2020.580097. PMID: 33117292Free PMC Article
Sun L, Goh HJ, Govindharajulu P, Sun L, Henry CJ, Leow MK
Sci Rep 2020 Jun 15;10(1):9661. doi: 10.1038/s41598-020-66697-0. PMID: 32541662Free PMC Article
Marras V, Casini MR, Pilia S, Carta D, Civolani P, Porcu M, Uccheddu AP, Loche S
Horm Res Paediatr 2010;73(3):193-7. Epub 2010 Mar 3 doi: 10.1159/000284361. PMID: 20197672

Clinical prediction guides

van Heemst D
Nat Rev Endocrinol 2024 Jan;20(1):5-15. Epub 2023 Nov 3 doi: 10.1038/s41574-023-00911-7. PMID: 37923847
Krysiak R, Kowalcze K, Okopień B
Pharmacology 2023;108(3):245-254. Epub 2023 Feb 15 doi: 10.1159/000528939. PMID: 36791677Free PMC Article
Zheng D, Liao H, Chen S, Liu X, Mao C, Zhang C, Meng M, Wang Z, Wang Y, Jiang Q, Xue Y, Zhou L, Chen Y
Front Endocrinol (Lausanne) 2021;12:796212. Epub 2021 Dec 16 doi: 10.3389/fendo.2021.796212. PMID: 34975767Free PMC Article
Biondi B, Cappola AR, Cooper DS
JAMA 2019 Jul 9;322(2):153-160. doi: 10.1001/jama.2019.9052. PMID: 31287527
Ayala AR, Danese MD, Ladenson PW
Endocrinol Metab Clin North Am 2000 Jun;29(2):399-415. doi: 10.1016/s0889-8529(05)70139-0. PMID: 10874537

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