Anti-POU1F1 monoclonal antibody Made to order

Background: POU1F1 is an essential transcription factor for the differentiation, proliferation and survival of somatotrophs, lactotrophs, and thyrotrophs. Mutations in the POU1F1 gene are characterized by growth hormone (GH), thyrotropin, and prolactin deficiencies, commonly presenting with growth retardation and central hypothyroidism. Since the first report in 1992, more than 25 mutations have been identified in POU1F1. Case Description: We describe a 17-year-old male who presented to our Pediatric Endocrinology clinic with extreme short stature (height 81.7 cm, -9.3 SD), cognitive impairment, deaf-mutism, and neurological disabilities. L-thyroxine supplemental therapy, which had been initiated at the age of 6 months but ceased due to non-compliance, was reintroduced at presentation. GH therapy was initiated at 19 years of age, resulting in 42 cm linear growth, to a final height of 124 cm. Sequencing of POU1F1 revealed a previously described homozygous insertion mutation-c.580_581insT, p (Thr194Ilefs*7)-in exon 4 causing a frameshift that introduces a stop codon 7 amino acids downstream, leading to a severely truncated protein lacking the homeodomain. Conclusion: This case report sheds light on the natural history of untreated patients with POU1F1 mutations and raises awareness for early diagnosis and adequate treatment of central congenital hypothyroidism and GH deficiency.

A novel type of pituitary-specific transcription factor, Prophet of Pit-1 (Prop-l) gene (PROP1), expresses in just early embryonic stage in mouse and closely related as a causative gene in combined pituitary hormone deficiency. We studied PROP1 expression to further clarify its correlation with tumorigenesis and biological behavior in human pituitary adenomas. Eighteen pituitary adenomas and three normal pituitary glands were examined for the expression of PROP1 and POU1F1 by using RT-PCR Pituitary adenomas were diagnosed as non-functioning adenomas (n=11), prolactinomas (n=5), OH-producing adenoma (n=1) and ACTH-producing adenoma (n=1). One of non-functioning adenomas was pituitary carcinoma with cerebellar metastasis and CSF dissemination. Our results demonstrated PROP1 expression in all pituitary tumors examined, in contrast, POU1F1 was detected in 14 of pituitary tumors. PROP1 was also expressed in normal pituitary gland, however, it was not in normal brain tissue, glioblastomas (cell lines and tumor tissues) and meningioma. Our data indicated that PROP1 expression was observed constantly both in the pituitary tumors and normal human adult pituitary tissues, suggesting that PROP1 is an essential transcriptional factor for pituitary specific gene expression in human. Therefore, detection of PROP1 might be a useful indicator for differentiating pituitary adenomas, regardless of their hormonal phenotypes, from other brain tumors.