Article
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.
Clinical endocrinology - 1 Jun 2003
McLennan Kim, Jeske Yvette, Cotterill Andrew, Cowley David, Penfold James, Jones Tim, Howard Neville, Thomsett Michael, Choong Catherine
Abstract excerpt
OBJECTIVE: Mutations in the gene for the POU domain transcription factor POU1F1 (human Pit-1) have been reported in patients with GH, TSH and PRL deficiencies. PROP1 (Prophet of Pit-1) gene mutations also cause gonadotrophin deficiencies and in some cases partial ACTH deficiency. This study analyses the POU1F1 and PROP1 genes in a cohort of Australian children with combined pituitary hormone deficiency (CPHD) and...
Topics
- Adolescent
- Adult
- Australia
- Child
- Child, Preschool
- Cohort Studies
- DNA-Binding Proteins
- Female
- Gene Frequency
- Growth Disorders
- Growth Hormone
- Humans
- Infant
- Infant, Newborn