Growth hormone insensitivity syndrome

MONDO:0015892

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.

Also known as: GHIS, Growth hormone insensitivity syndromes, short stature due to a defect in growth hormone receptor or post-receptor pathway

6 clinical trials for this condition and its sub-types, 0 tagged with Growth hormone insensitivity syndrome itself.

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Part of

↑ Syndromic disease (7158) ↑ Hereditary endocrine growth disease (196)

Sub-types of Growth hormone insensitivity syndrome

Growth delay due to insulin-like growth factor I resistance 4 trials
Growth delay due to insulin-like growth factor type 1 deficiency 1 trial
Growth hormone insensitivity syndrome with immune dysregulation 0 trials · 1 incl. sub-types
2 sub-types
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 1 trial
- Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 0 trials
Laron syndrome 0 trials
Short stature due to partial GHR deficiency 0 trials
Short stature due to primary acid-labile subunit deficiency 0 trials

Including sub-types (6) Tagged with Growth hormone insensitivity syndrome (0)

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