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- Title
Adult combined GH, prolactin, and TSH deficiency associated with circulating PIT-1 antibody in humans.
- Authors
Yamamoto, Masaaki; Iguchi, Genzo; Takeno, Ryoko; Okimura, Yasuhiko; Sano, Toshiaki; Takahashi, Michiko; Nishizawa, Hitoshi; Handayaningshi, Anastasia Evi; Fukuoka, Hidenori; Tobita, Maya; Saitoh, Takatoshi; Tojo, Katsuyoshi; Mokubo, Atsuko; Morinobu, Akio; Iida, Keiji; Kaji, Hidesuke; Seino, Susumu; Chihara, Kazuo; Takahashi, Yutaka
- 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.
- Subjects
SOMATOTROPIN; PROLACTIN; CELLS; PHENOTYPES; AUTOIMMUNITY; HYPOPARATHYROIDISM; CANDIDIASIS
- Publication
Journal of Clinical Investigation, 2011, Vol 121, Issue 1, p113
- ISSN
0021-9738
- Publication type
journal article
- DOI
10.1172/JCI44073