Growth hormone insensitivity syndrome

Orpha code: 181393OMIM code:

Definicja

Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).

Disease data
Klasyfikacja

Category

Synonimy
GHIS
GHIS
Niski wzrost z powodu defektu receptora dla hormonu wzrostu lub szlaku poreceptorowego
Short stature due to a defect in growth hormone receptor or post-receptor pathway
Kod ORPHA
181393
Kod OMIM
-
Kod ICD10
E34.3
Kod ICD11
-

No additional description.

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