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

More general terms

• hyposomatotropism (growth hormone deficiency)
• genetic disease of the endocrine system

Database

• OMIM: https://mirror.omim.org/entry/612781
• OMIM: https://mirror.omim.org/entry/262400