caa a22 4500 469049529 CHVBK 20180323132826.0 cr unu---uuuuu 170328e19920601xx s 000 0 eng 10.1007/BF02921348 doi (NATIONALLICENCE)springer-10.1007/BF02921348 Absence of somatotrophs, lactotrophs, and thyrotrophs in the pituitary of two dwarfs with hypothyroidism: Deficiency of pituitary transcription factor-1? [Elektronische Daten] [Sylvia Asa, Kaiman Kovacs, Andrea Halasz, Anna Toszegi, Peter Szücs] Most patients with dwarfism due to growth hormone (GH) deficiency have normal pituitary somatotroph morphology and GH response to GH-releasing hormone (GRH), consistent with decreased GRH synthesis, release, or delivery. Primary pituitary hyposecretion of GH may result from adenohypophysial tissue destruction caused by tumors, such as craniopharyngioma. We report a hitherto undescribed form of primary pituitary dwarfism associated with absence of adenohypophysial GH, prolactin (PRL), and thyrotropin (TSH). Two sisters had dwarfism, hypothyroidism, and hypoglycemia. The first child had craniofacial abnormalities and died at age 11/2 months of fluid overload. The second sibling died at age 4 years of pulmonary congestion. At autopsy, both pituitaries were small and acidophils were conspicuously absent. They contained a normal number of corticotrophs with intense adrenocorticotropin (ACTH) immunoreactivity, and gonadotrophs with normal content of α-subunit and β-subunits of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). No GH, PRL, or β-TSH immunoreactivity was identified. The thyroid glandswere atrophic. Both children had marked pancreatic nesidioblastosis, with an increased number of insulin-containing cells. This clinicopathologic entity appears to represent a familial disorder in which there is defective development of three adenohypophysial cell types: somatotrophs, lactotrophs, and thyrotrophs. A common pituitary transcription factor, Pit-1, has been implicated in the differentiation of these three cell types. The pituitary changes in these two children resemble those described in Snell, Jackson, and Ames dwarf mice, which have recently been shown to be due to abnormalities of the Pit-1 gene. We suggest that this novel human disease is due to deficient or abnormal pituitary transcription factor Pit-1. Humana Press Inc., 1992 Asa Sylvia Department of Pathology, St. Michael's Hospital, University of Toronto, 30 Bond Street, M5B 1W8, Toronto, Ontario, Canada aut Kovacs Kaiman Department of Pathology, St. Michael's Hospital, University of Toronto, 30 Bond Street, M5B 1W8, Toronto, Ontario, Canada aut Halasz Andrea Department of Pathology and Pediatrics, Albert Szent-Györgyi Medical University, Szeged, Hungary aut Toszegi Anna Department of Pathology and Pediatrics, Albert Szent-Györgyi Medical University, Szeged, Hungary aut Szücs Peter Department of Pediatrics, Albert Szent-Györgyi Medical University, Szeged, Hungary aut Endocrine Pathology Humana Press 3/2(1992-06-01), 93-98 1046-3976 3:2<93 1992 3 12022 https://doi.org/10.1007/BF02921348 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02921348 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Asa Sylvia Department of Pathology, St. Michael's Hospital, University of Toronto, 30 Bond Street, M5B 1W8, Toronto, Ontario, Canada aut NATIONALLICENCE 700 1- Kovacs Kaiman Department of Pathology, St. Michael's Hospital, University of Toronto, 30 Bond Street, M5B 1W8, Toronto, Ontario, Canada aut NATIONALLICENCE 700 1- Halasz Andrea Department of Pathology and Pediatrics, Albert Szent-Györgyi Medical University, Szeged, Hungary aut NATIONALLICENCE 700 1- Toszegi Anna Department of Pathology and Pediatrics, Albert Szent-Györgyi Medical University, Szeged, Hungary aut NATIONALLICENCE 700 1- Szücs Peter Department of Pediatrics, Albert Szent-Györgyi Medical University, Szeged, Hungary aut NATIONALLICENCE 773 0- Endocrine Pathology Humana Press 3/2(1992-06-01), 93-98 1046-3976 3:2<93 1992 3 12022 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer