growth hormone deficiency isolated type 1A; pituitary dwarfism I (IGHD1A)

Genetics

• autosomal recessive
• associated with defects in GH1

Clinical manifestations

• short stature, severe dwarfism

Laboratory

• serum growth hormone is absent

Complications

• patients often develop anti-GH antibodies when given exogenous GH

More general terms

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

Database

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