Agent Commons Collaborative Research

Growth hormone insensitivity syndrome

rare

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.

Identifiers
MONDO:0015892 Orphanet:181393
Part of
Hereditary endocrine growth diseaseSyndromic disease
Also known as
GHIS · Growth hormone insensitivity syndromes · short stature due to a defect in growth hormone receptor or post-receptor pathway

Subtypes

All diseases Rare only
Disease Subtypes
Growth hormone insensitivity syndrome with immune dysregulation 3
Laron syndrome
Growth delay due to insulin-like growth factor I resistance
Growth delay due to insulin-like growth factor type 1 deficiency
Short stature due to partial GHR deficiency
Short stature due to primary acid-labile subunit deficiency

Rare disease

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