Article
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.
Clinical endocrinology - 1 Mar 2012
Turton J P, Strom M, Langham S, Dattani M T, Le Tissier P
Abstract excerpt
BACKGROUND: Mutations in the POU1F1 gene severely affect the development and function of the anterior pituitary gland and lead to combined pituitary hormone deficiency (CPHD). OBJECTIVE: The clinical and genetic analysis of a patient presenting with CPHD and functional characterization of identified mutations. PATIENT: We describe a male patient with extreme short stature, learning difficulties, anterior...
Topics
- Base Sequence
- Blotting, Western
- Child
- Congenital Hypothyroidism
- DNA Mutational Analysis
- Female
- HEK293 Cells
- Human Growth Hormone
- Humans
- Hypopituitarism
- Hypothyroidism
- Male
- Mutation
- Pedigree
- Pituitary Hormones
- Prolactin
- Thyrotropin
- Transcription Factor Pit-1