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growth hormone deficiency isolated type 1B; dwarfism of Sindh (IGHD1B)
Genetics:
- autosomal recessive
- associated with defects in GH1
- associated with defects in GHRHR
Clinical manifestations:
- dwarfism is less severe than in IGHD1A
Laboratory:
- serum growth hormone very low but detectable
Management:
- patients usually respond well to exogenous GH
General
hyposomatotropism (growth hormone deficiency)
genetic disease of the endocrine system
Database Correlations
OMIM correlations
References
OMIM :accession 612781