growth hormone deficiency isolated type 2; dwarfism of Sindh (IGHD1B)

Genetics

• autosomal dominant
• associated with defects in GH1

Clinical manifestations

• short stature
• clinical severity is variable.

Laboratory

• serum growth hormone may be low

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/173100