title: Hereditary pituitary hyperplasia with infantile gigantism.
abstract: BACKGROUND
  We report hereditary pituitary hyperplasia.
  
  
  OBJECTIVE
  The objective of the study was to describe the results of the clinical and laboratory analysis of this rare instance of hereditary pituitary hyperplasia.
  
  
  METHODS
  The study is a retrospective analysis of three cases from one family.
  
  
  METHODS
  The study was conducted at the National Institutes of Health, a tertiary referral center.
  
  
  METHODS
  A mother and both her sons had very early-onset gigantism associated with high levels of serum GH and prolactin.
  
  
  METHODS
  The condition was treated by total hypophysectomy.
  
  
  METHODS
  We performed clinical, pathological, and molecular evaluations, including evaluation basal and provocative endocrine testing, neuroradiological assessment, and assessment of the pituitary tissue by microscopic evaluation, immunohistochemistry, and electron microscopy.
  
  
  RESULTS
  All three family members had very early onset of gigantism associated with abnormally high serum levels of GH and prolactin. Serum GHRH levels were not elevated in either of the boys. The clinical, radiographic, surgical, and histological findings indicated mammosomatotroph hyperplasia. The pituitary gland of both boys revealed diffuse mammosomatotroph hyperplasia of the entire pituitary gland without evidence of adenoma. Prolactin and GH were secreted by the same cells within the same secretory granules. Western blot and immunohistochemistry demonstrated expression of GHRH in clusters of cells distributed throughout the hyperplastic pituitary of both boys.
  
  
  CONCLUSIONS
  This hereditary condition seems to be a result of embryonic pituitary maldevelopment with retention and expansion of the mammosomatotrophs. The findings suggest that it is caused by paracrine or autocrine pituitary GHRH secretion during pituitary development.
authors: Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors: Sven
authors: S
authors: Gläsker
authors: Alexander O
authors: AO
authors: Vortmeyer
authors: Antony R A
authors: AR
authors: Lafferty
authors: Paul L
authors: PL
authors: Hofman
authors: Jie
authors: J
authors: Li
authors: Robert J
authors: RJ
authors: Weil
authors: Zhengping
authors: Z
authors: Zhuang
authors: Edward H
authors: EH
authors: Oldfield
mesh_terms: D000236:Adenoma / Q000473:pathology / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D005260:Female; D005877:Gigantism / Q000151:congenital* / Q000601:surgery; D019382:Human Growth Hormone / Q000097:blood; D006801:Humans; D006965:Hyperplasia / Q000473:pathology; D007016:Hypophysectomy; D007223:Infant; D008297:Male; D010902:Pituitary Gland / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery; D010911:Pituitary Neoplasms / Q000473:pathology / Q000601:surgery; D011388:Prolactin / Q000097:blood; D016896:Treatment Outcome
chemical_list: D019382:Human Growth Hormone; D011388:Prolactin