Description:
<jats:title>Summary</jats:title>
<jats:p>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. <jats:italic>PROP1</jats:italic> 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 <jats:italic>PROP1</jats:italic> gene. In summary, compliance with hormonal therapy for patients with hypopituitarism appears to be effective for the prevention and treatment of acute psychosis symptoms.</jats:p>
<jats:sec>
<jats:title>Learning points:</jats:title>
<jats:list list-type="bullet">
<jats:list-item>
<jats:p>Patients with <jats:italic>PROP1</jats:italic> gene mutation may present with psychosis with no impairment in orientation and memory.</jats:p>
</jats:list-item>
<jats:list-item>
<jats:p>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>
</jats:list-item>
<jats:list-item>
<jats:p>Compliance with hormonal therapy for patients with hypopituitarism appears to be effective for prevention and treatment of acute psychosis symptoms.</jats:p>
</jats:list-item>
</jats:list>
</jats:sec>