KEGG   DISEASE: Isolated TSH deficiencyHelp
Entry
H01699                      Disease                                

Name
Isolated TSH deficiency
  Supergrp
Hypopituitarism [DS:H01700]
Description
Isolated TSH deficiency is a rare autosomal recessive disease, that cause congenital hypothyroidism. Patients were found to have homozygous splice site mutation in the TSH beta subunit gene. They show symptoms of severe mental and growth retardation that can be prevented by early administration of exogenous thyroid hormone. Levothyroxine replacement therapy is the treatment of choice. Concomitant corticotropin deficiency should be excluded prior to starting therapy in order to avoid an adrenal crisis.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Hypothalamus and pituitary gland diseases
   H01699  Isolated TSH deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain specified disorders of pituitary gland
     H01699  Isolated TSH deficiency
BRITE hierarchy
Pathway
hsa04918  Thyroid hormone synthesis
Gene
TSHB [HSA:7252] [KO:K05251]
Drug
Paricalcitol [DR:D00930]
Comment
See also H00250 Congenital nongoitrous hypothyroidism (CHNG).
Other DBs
ICD-11: 5A61.4
ICD-10: E23.0
MeSH: C536917
OMIM: 275100
Reference
  Authors
Borck G, Topaloglu AK, Korsch E, Martine U, Wildhardt G, Onenli-Mungan N, Yuksel B, Aumann U, Koch G, Ozer G, Pfaffle R, Scherberg NH, Refetoff S, Pohlenz J
  Title
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
  Journal
J Clin Endocrinol Metab 89:4136-41 (2004)
DOI:10.1210/jc.2004-0494
Reference
PMID:1971148
  Authors
Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC
  Title
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.
  Journal
Am J Hum Genet 46:988-93 (1990)
Reference
PMID:17077946 (drug, marker)
  Authors
Ascoli P, Cavagnini F
  Title
Hypopituitarism.
  Journal
Pituitary 9:335-42 (2006)
DOI:10.1007/s11102-006-0416-5

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