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PROP1 gene mutations in a 36-year-old female presenting with psychosis

SUMMARY: 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. PROP1 gene mutations are one of the etiological diagnoses of congenital panhypopituitarism, however sym...

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Autores principales: Chaudhary, Durgesh Prasad, Rijal, Tshristi, Jha, Kunal Kishor, Saluja, Harpreet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404466/
https://www.ncbi.nlm.nih.gov/pubmed/28458894
http://dx.doi.org/10.1530/EDM-16-0096
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author Chaudhary, Durgesh Prasad
Rijal, Tshristi
Jha, Kunal Kishor
Saluja, Harpreet
author_facet Chaudhary, Durgesh Prasad
Rijal, Tshristi
Jha, Kunal Kishor
Saluja, Harpreet
author_sort Chaudhary, Durgesh Prasad
collection PubMed
description SUMMARY: 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. PROP1 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 PROP1 gene. In summary, compliance with hormonal therapy for patients with hypopituitarism appears to be effective for the prevention and treatment of acute psychosis symptoms. LEARNING POINTS: Patients with PROP1 gene mutation may present with psychosis with no impairment in orientation and memory. 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. Compliance with hormonal therapy for patients with hypopituitarism appears to be effective for prevention and treatment of acute psychosis symptoms.
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spelling pubmed-54044662017-04-28 PROP1 gene mutations in a 36-year-old female presenting with psychosis Chaudhary, Durgesh Prasad Rijal, Tshristi Jha, Kunal Kishor Saluja, Harpreet Endocrinol Diabetes Metab Case Rep Unique/Unexpected Symptoms or Presentations of a Disease SUMMARY: 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. PROP1 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 PROP1 gene. In summary, compliance with hormonal therapy for patients with hypopituitarism appears to be effective for the prevention and treatment of acute psychosis symptoms. LEARNING POINTS: Patients with PROP1 gene mutation may present with psychosis with no impairment in orientation and memory. 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. Compliance with hormonal therapy for patients with hypopituitarism appears to be effective for prevention and treatment of acute psychosis symptoms. Bioscientifica Ltd 2017-03-23 /pmc/articles/PMC5404466/ /pubmed/28458894 http://dx.doi.org/10.1530/EDM-16-0096 Text en © 2017 The authors http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en_GB This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en_GB) .
spellingShingle Unique/Unexpected Symptoms or Presentations of a Disease
Chaudhary, Durgesh Prasad
Rijal, Tshristi
Jha, Kunal Kishor
Saluja, Harpreet
PROP1 gene mutations in a 36-year-old female presenting with psychosis
title PROP1 gene mutations in a 36-year-old female presenting with psychosis
title_full PROP1 gene mutations in a 36-year-old female presenting with psychosis
title_fullStr PROP1 gene mutations in a 36-year-old female presenting with psychosis
title_full_unstemmed PROP1 gene mutations in a 36-year-old female presenting with psychosis
title_short PROP1 gene mutations in a 36-year-old female presenting with psychosis
title_sort prop1 gene mutations in a 36-year-old female presenting with psychosis
topic Unique/Unexpected Symptoms or Presentations of a Disease
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404466/
https://www.ncbi.nlm.nih.gov/pubmed/28458894
http://dx.doi.org/10.1530/EDM-16-0096
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