Endocrine Abstracts

Familial combined pituitary hormone deficiency can be due to a PROP 1 gene mutation. PROP1 is essential to pituitary morphogenesis. Mutations with inactivation of this gene results in deficiency of GH, PRL, TSH, LH, FSH and in some cases, ACTH.The authors describe an affected family, two sibs, with panhyopituitarism: a 10 years old female, and a 15 years old male, who presented with growth and pubertary development delay. Both children lacked GH, TSH, PR...