Adult combined GH, prolactin, and TSH deficiency associated with circulating PIT-1 antibody in humans

J Clin Invest. 2011 Jan;121(1):113-9. doi: 10.1172/JCI44073. Epub 2010 Dec 1.

Abstract

The pituitary-specific transcriptional factor-1 (PIT-1, also known as POU1F1), is an essential factor for multiple hormone-secreting cell types. A genetic defect in the PIT-1 gene results in congenital growth hormone (GH), prolactin (PRL), and thyroid-stimulating hormone (TSH) deficiency. Here, we investigated 3 cases of adult-onset combined GH, PRL, and TSH deficiencies and found that the endocrinological phenotype in each was linked to autoimmunity directed against the PIT-1 protein. We detected anti-PIT-1 antibody along with various autoantibodies in the patients' sera. An ELISA-based screening revealed that this antibody was highly specific to the disease and absent in control subjects. Immunohistochemical analysis revealed that PIT-1-, GH-, PRL-, and TSH-positive cells were absent in the pituitary of patient 2, who also had a range of autoimmune endocrinopathies. These clinical manifestations were compatible with the definition of autoimmune polyendocrine syndrome (APS). However, the main manifestations of APS-I--hypoparathyroidism and Candida infection--were not observed and the pituitary abnormalities were obviously different from the hypophysitis associated with APS. These data suggest that these patients define a unique "anti-PIT-1 antibody syndrome," related to APS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Antibody Specificity
  • Autoantibodies / blood*
  • Human Growth Hormone / deficiency*
  • Humans
  • Immunohistochemistry
  • Male
  • Pituitary Gland / metabolism
  • Polyendocrinopathies, Autoimmune / blood
  • Polyendocrinopathies, Autoimmune / immunology*
  • Polyendocrinopathies, Autoimmune / metabolism
  • Prolactin / deficiency*
  • Thyrotropin / deficiency*
  • Transcription Factor Pit-1 / antagonists & inhibitors*
  • Transcription Factor Pit-1 / deficiency
  • Transcription Factor Pit-1 / immunology*

Substances

  • Autoantibodies
  • POU1F1 protein, human
  • Transcription Factor Pit-1
  • Human Growth Hormone
  • Prolactin
  • Thyrotropin