Hyophysenhormonmangel Typ 4
Der kombinierter Hypophysenhormonmangel mit oder ohne Kleinhirndefekten ist eine autosomal dominate Erkrankung, die durch Mutationen im LHX4-Gen hervorgerufen wird.Neben dem Fehlen verschiedener Hypophysenhormone fallen gelegentlich Kleinhirndefekte auf.
Gliederung
Kombinierter Hypophysenhormon-Mangel
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Hyophysenhormonmangel Typ 1
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Hyophysenhormonmangel Typ 2
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Hyophysenhormonmangel Typ 3
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Hyophysenhormonmangel Typ 4
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LHX4
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Hyophysenhormonmangel Typ 5
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Referenzen:
| 1. |
Machinis K et. al. (2001) Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. [^] |
| 2. |
Tajima T et. al. (2007) A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. [^] |
| 3. |
Pfaeffle RW et. al. (2008) Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. [^] |
| 4. |
Ferrier PE et. al. (1969) Familial pituitary dwarfism associated with an abnormal sella turcica. [^] |
