{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:48Z","timestamp":1784557008307,"version":"3.55.0"},"reference-count":13,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,3,23]]},"abstract":"Summary<\/jats:title>\n \n Combined pituitary hormonal deficiency (CPHD) is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells.\n PROP1<\/jats:italic>\n gene mutations are one of the etiological diagnoses of congenital panhypopituitarism, however symptoms vary depending on phenotypic expression. We present a case of psychosis in a 36-year-old female with congenital panhypopituitarism who presented with paranoia, flat affect and ideas of reference without a delirious mental state, which resolved with hormone replacement and antipsychotics. Further evaluation revealed that she had a homozygous mutation of\n PROP1<\/jats:italic>\n gene. In summary, compliance with hormonal therapy for patients with hypopituitarism appears to be effective for the prevention and treatment of acute psychosis symptoms.\n <\/jats:p>\n \n Learning points:<\/jats:title>\n \n \n \n Patients with\n PROP1<\/jats:italic>\n gene mutation may present with psychosis with no impairment in orientation and memory.\n <\/jats:p>\n <\/jats:list-item>\n \n There is currently inadequate literature on this topic, and further study on the possible mechanisms of psychosis as a result of endocrine disturbance is required.<\/jats:p>\n <\/jats:list-item>\n \n Compliance with hormonal therapy for patients with hypopituitarism appears to be effective for prevention and treatment of acute psychosis symptoms.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-16-0096","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T07:43:12Z","timestamp":1490254992000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":2,"title":["PROP1 gene mutations in a 36-year-old female presenting with psychosis"],"prefix":"10.1530","volume":"2017","author":[{"given":"Durgesh Prasad","family":"Chaudhary","sequence":"first","affiliation":[{"name":"1BP Koirala Institute of Health Sciences, Dharan Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tshristi","family":"Rijal","sequence":"additional","affiliation":[{"name":"1BP Koirala Institute of Health Sciences, Dharan Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunal Kishor","family":"Jha","sequence":"additional","affiliation":[{"name":"2Critical Care Medicine, Geisinger Medical Center, Danville, Pennsylvania 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