Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Nicolas JullienAlexandru SaveanuJulia VergierEmeline MarquantMarie Helene QuentienFrederic CastinettiNoémie Galon-FaureRaja BraunerZinet Marrakchi TurkiMaité TauberMohamed El KholyAgnès LinglartPatrice RodienNora Soumeya FedalaIgnacio BergadaChristine Cortet-RudelliMichel PolakMarc NicolinoChantal StuckensAnne BarlierThierry BrueRachel Reynaudnull nullPublished in: Clinical endocrinology (2020)
This large international cohort highlights atypical phenotypic presentation of constitutional hypopituitarism, such as post pubertal presentation or adult progression of hormonal deficiencies. These results justify long-term follow-up, and the need for systematic evaluation of associated abnormalities. Genetic defects were rarely identified, mainly PROP1 mutations in pure endocrine phenotypes.