Adult combined GH, prolactin, and TSH deficiency associated with circulating PIT-1 antibody in humans.
J Clin Invest
; 121(1): 113-9, 2011 Jan.
Article
em En
| MEDLINE
| ID: mdl-21123951
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Prolactina
/
Autoanticorpos
/
Tireotropina
/
Poliendocrinopatias Autoimunes
/
Hormônio do Crescimento Humano
/
Fator de Transcrição Pit-1
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Aged
/
Humans
/
Male
Idioma:
En
Revista:
J Clin Invest
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Japão