Article
Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene.
The Journal of clinical endocrinology and metabolism - 1 Jan 1999
Rosenbloom A L, Almonte A S, Brown M R, Fisher D A, Baumbach L, Parks J S
Abstract excerpt
We have investigated the largest family with PROP1 deficiency reported to date. Eight patients, aged 17-40 yr, in two sibships with possibly related mothers but no parental consanguinity were 109-137 cm in height (-8.8 to [minus]5.9 SD score) and sexually immature. None had received hormonal ther...
Topics
- Adolescent
- Adult
- Female
- Gonadal Steroid Hormones
- Homeodomain Proteins
- Human Growth Hormone
- Humans
- Hydrocortisone
- Hypopituitarism
- Insulin-Like Growth Factor Binding Proteins
- Male
- Mutation
- Phenotype
- Receptors, Somatotropin
- Transcription Factors