A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

@article{Reynaud2004AFF,
  title={A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.},
  author={Rachel Reynaud and Molka Chadli-Chaieb and Sophie Vallette-Kasic and Anne Barlier and Jacques Sarles and Isabelle Pellegrini-Bouiller and Alain Enjalbert and Larbi Chaieb and Thierry Brue},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2004},
  volume={89 11},
  pages={5779-86}
}
We report the natural history of a hypopituitarism in a large Tunisian kindred including 29 subjects from the same consanguineous family. The index case was a 9-yr-old girl with severe growth retardation due to complete GH deficiency and partial corticotroph, lactotroph, and thyrotroph deficiencies. Magnetic resonance imaging showed a hyperplastic anterior pituitary. Thirteen of the 28 relatives examined (10 female subjects) had hypopituitarism. In the 14 patients, previously untreated (aged 6… CONTINUE READING