KEGG   DISEASE: Central hypothyroidism and testicular enlargement
Entry
H02034                      Disease                                
Name
Central hypothyroidism and testicular enlargement
Description
Central hypothyroidism and testicular enlargement is a novel X-linked disorder in which loss-of-function mutations in IGSF1 are observed. It causes central hypothyroidism, testicular enlargement, and variable prolactin and growth hormone deficiency.
Category
Endocrine and metabolic disease
Brite
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 other specified disorders of pituitary gland
     H02034  Central hypothyroidism and testicular enlargement
Gene
IGSF1 [HSA:3547] [KO:K26168]
Other DBs
ICD-11: 5A61.41
MeSH: D003409
OMIM: 300888
Reference
PMID:23143598
  Authors
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ
  Title
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
  Journal
Nat Genet 44:1375-81 (2012)
DOI:10.1038/ng.2453
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