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Central hypothyroidism

MedGen UID:
488836
Concept ID:
C0271801
Disease or Syndrome
Synonyms: Central Hypothyroidism; Central Hypothyroidisms; Hypothyroidism, Central; Hypothyroidism, Secondary; Secondary Hypothyroidism; Secondary Hypothyroidisms
SNOMED CT: Central hypothyroidism (26692000)
 
HPO: HP:0011787

Definition

A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. [from HPO]

Conditions with this feature

Seckel syndrome 7
MedGen UID:
766784
Concept ID:
C3553870
Disease or Syndrome
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.
X-linked intellectual disability, Cantagrel type
MedGen UID:
813060
Concept ID:
C3806730
Disease or Syndrome
X-linked intellectual developmental disorder-98 (XLID98) is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).
Polyendocrine-polyneuropathy syndrome
MedGen UID:
863698
Concept ID:
C4015261
Disease or Syndrome
A rare genetic disease with characteristics of childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.
Joubert syndrome 26
MedGen UID:
900415
Concept ID:
C4084843
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Intellectual disability, X-linked, syndromic, 35
MedGen UID:
1392054
Concept ID:
C4478383
Disease or Syndrome
Hypothyroidism, congenital, nongoitrous, 8
MedGen UID:
1684717
Concept ID:
C5231395
Disease or Syndrome
Congenital nongoitrous hypothyroidism-8 (CHNG8) is characterized by relatively mild central hypothyroidism, which may be accompanied by hearing loss in some patients (Heinen et al., 2016).
Hypothyroidism, congenital, nongoitrous, 9
MedGen UID:
1684807
Concept ID:
C5231396
Disease or Syndrome
Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH) (Heinen et al., 2018).
BDV syndrome
MedGen UID:
1785671
Concept ID:
C5543403
Disease or Syndrome
BDV syndrome (BDVS) is an autosomal recessive disorder characterized by early-onset profound obesity, hyperphagia, and moderately impaired intellectual development accompanied by infantile hypotonia and other endocrine disorders including hypogonadotropic hypogonadism, hypothyroidism, and insulin resistance (summary by Bosch et al., 2021).
Neurooculorenal syndrome
MedGen UID:
1841013
Concept ID:
C5830377
Disease or Syndrome
Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder with highly variable clinical manifestations involving several organ systems. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life, whereas others present in infancy with a neurodevelopmental disorder characterized by global developmental delay and dysmorphic facial features that may be associated with congenital anomalies of the kidney and urinary tract (CAKUT). Additional more variable features may include ocular anomalies, most commonly strabismus, congenital heart defects, and pituitary hormone deficiency. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain. There is variation in the severity, manifestations, and expressivity of the phenotype, even within families (Rasmussen et al., 2018; Munch et al., 2022).

Professional guidelines

PubMed

LaFranchi SH
Front Endocrinol (Lausanne) 2021;12:666207. Epub 2021 Jun 15 doi: 10.3389/fendo.2021.666207. PMID: 34211436Free PMC Article
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
Leung AKC, Leung AAC
World J Pediatr 2019 Apr;15(2):124-134. Epub 2019 Feb 8 doi: 10.1007/s12519-019-00230-w. PMID: 30734891

Recent clinical studies

Etiology

Höybye C, Tauber M
J Clin Endocrinol Metab 2022 May 17;107(6):1698-1705. doi: 10.1210/clinem/dgac082. PMID: 35150573Free PMC Article
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
Leung AKC, Leung AAC
World J Pediatr 2019 Apr;15(2):124-134. Epub 2019 Feb 8 doi: 10.1007/s12519-019-00230-w. PMID: 30734891
Diker-Cohen T, Rozen-Zvi B, Yelin D, Akirov A, Robenshtok E, Gafter-Gvili A, Shepshelovich D
Intern Emerg Med 2018 Aug;13(5):679-688. Epub 2018 May 22 doi: 10.1007/s11739-018-1872-4. PMID: 29790126
Khandelwal D, Tandon N
Drugs 2012 Jan 1;72(1):17-33. doi: 10.2165/11598070-000000000-00000. PMID: 22191793

Diagnosis

Rose SR, Wassner AJ, Wintergerst KA, Yayah-Jones NH, Hopkin RJ, Chuang J, Smith JR, Abell K, LaFranchi SH; SECTION ON ENDOCRINOLOGY EXECUTIVE COMMITTEE; COUNCIL ON GENETICS EXECUTIVE COMMITTEE
Pediatrics 2023 Jan 1;151(1) doi: 10.1542/peds.2022-060419. PMID: 36827523
Jansen HI, Boelen A, Heijboer AC, Bruinstroop E, Fliers E
Front Endocrinol (Lausanne) 2023;14:1130661. Epub 2023 Feb 6 doi: 10.3389/fendo.2023.1130661. PMID: 36814580Free PMC Article
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
Cherella CE, Wassner AJ
Curr Opin Endocrinol Diabetes Obes 2020 Feb;27(1):63-69. doi: 10.1097/MED.0000000000000520. PMID: 31789720
Persani L
J Clin Endocrinol Metab 2012 Sep;97(9):3068-78. Epub 2012 Jul 31 doi: 10.1210/jc.2012-1616. PMID: 22851492

Therapy

Jansen HI, Boelen A, Heijboer AC, Bruinstroop E, Fliers E
Front Endocrinol (Lausanne) 2023;14:1130661. Epub 2023 Feb 6 doi: 10.3389/fendo.2023.1130661. PMID: 36814580Free PMC Article
Cherella CE, Wassner AJ
Curr Opin Endocrinol Diabetes Obes 2020 Feb;27(1):63-69. doi: 10.1097/MED.0000000000000520. PMID: 31789720
Soliman AT, De Sanctis V, Yassin M, Wagdy M, Soliman N
Acta Biomed 2017 Apr 28;88(1):119-127. doi: 10.23750/abm.v88i1.6048. PMID: 28467346Free PMC Article
Persani L
J Clin Endocrinol Metab 2012 Sep;97(9):3068-78. Epub 2012 Jul 31 doi: 10.1210/jc.2012-1616. PMID: 22851492
Khandelwal D, Tandon N
Drugs 2012 Jan 1;72(1):17-33. doi: 10.2165/11598070-000000000-00000. PMID: 22191793

Prognosis

Höybye C, Tauber M
J Clin Endocrinol Metab 2022 May 17;107(6):1698-1705. doi: 10.1210/clinem/dgac082. PMID: 35150573Free PMC Article
LaFranchi SH
Front Endocrinol (Lausanne) 2021;12:666207. Epub 2021 Jun 15 doi: 10.3389/fendo.2021.666207. PMID: 34211436Free PMC Article
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
Leung AKC, Leung AAC
World J Pediatr 2019 Apr;15(2):124-134. Epub 2019 Feb 8 doi: 10.1007/s12519-019-00230-w. PMID: 30734891
García M, González de Buitrago J, Jiménez-Rosés M, Pardo L, Hinkle PM, Moreno JC
J Clin Endocrinol Metab 2017 Jul 1;102(7):2433-2442. doi: 10.1210/jc.2016-3977. PMID: 28419241Free PMC Article

Clinical prediction guides

Poirier J, Godemel S, Mourot A, Grunenwald S, Olney HJ, Le XK, Lacroix A, Caron P, Bourdeau I
J Clin Endocrinol Metab 2023 Aug 18;108(9):2336-2342. doi: 10.1210/clinem/dgad115. PMID: 36856782
Jansen HI, Boelen A, Heijboer AC, Bruinstroop E, Fliers E
Front Endocrinol (Lausanne) 2023;14:1130661. Epub 2023 Feb 6 doi: 10.3389/fendo.2023.1130661. PMID: 36814580Free PMC Article
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
Diaz A, Lipman Diaz EG
Pediatr Rev 2014 Aug;35(8):336-47; quiz 348-9. doi: 10.1542/pir.35-8-336. PMID: 25086165
Persani L
J Clin Endocrinol Metab 2012 Sep;97(9):3068-78. Epub 2012 Jul 31 doi: 10.1210/jc.2012-1616. PMID: 22851492

Recent systematic reviews

Kumar S, Sarathi V, Lila AR, Sehemby M, Memon SS, Karlekar M, Sankhe S, Patil VA, Shah N, Bandgar T
Pituitary 2022 Dec;25(6):819-830. Epub 2022 Jul 18 doi: 10.1007/s11102-022-01250-y. PMID: 35851929
Han Y, Yang J, Zhong R, Guo X, Cai M, Lin W
Neurol Sci 2022 Sep;43(9):5217-5227. Epub 2022 May 30 doi: 10.1007/s10072-022-06120-w. PMID: 35644830
Gregoric N, Groselj U, Bratina N, Debeljak M, Zerjav Tansek M, Suput Omladic J, Kovac J, Battelino T, Kotnik P, Avbelj Stefanija M
Front Endocrinol (Lausanne) 2021;12:689387. Epub 2021 Jun 9 doi: 10.3389/fendo.2021.689387. PMID: 34177811Free PMC Article
Naafs JC, Vendrig LM, Limpens J, van der Lee HJ, Duijnhoven RG, Marchal JP, van Trotsenburg AS, Zwaveling-Soonawala N
Eur J Endocrinol 2020 Mar;182(3):351-361. doi: 10.1530/EJE-19-0874. PMID: 31961799

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