Article
Clinical and molecular characterization of a Brazilian patient with Pit-1 deficiency.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000
Arnhold I J, Nery M, Brown M R, Voss T C, VanderHeyden T C, Adess M E, Hurley D L, Wajchenberg B L, Parks J S
Abstract excerpt
We studied a 14 year-old girl with extreme short stature (-9.5 SDS), normal psychomotor development and signs of progressive hypothyroidism. Basal IGF-I and T4 were low. Serum GH was low after insulin-induced hypoglycemia and GH-releasing hormone administration. Both TSH and prolactin were low an...
Topics
- Adolescent
- Brazil
- DNA
- DNA-Binding Proteins
- Female
- Growth Disorders
- Human Growth Hormone
- Humans
- Hypopituitarism
- Hypothyroidism
- Insulin-Like Growth Factor I
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Prolactin
- Thyrotropin
- Thyroxine
- Transcription Factor Pit-1
