Psychotic disturbances in adult female patient with congenital hypopituitarism due to mutation in PROP1 gene.

INTRODUCTION: Untreated congenital hypopituitarism in adult patient is - nowadays - a very rare observation.

CASE: A 52 years old female patient, was referred to the Department of Psychiatry for psychotic symptoms, manifested as auditory pseudohallucinations with delusional interpretation, significant psychomotor agitation, anosognosia, attempts of symptom dissimulation and negativism. At admission, attention was drawn to her short stature and low body weight. Because of general weakness, she was hardly moving, her skin was pale, dry, cold, little elastic and desquamating. Neither axillary nor pubic hair could be traced. Basic studies revealed anaemia, significant hyponatraemia and hypercholesterolaemia. Hormonal tests confirmed diagnosis of hypopituitarism. Genetics studies revealed mutations (150delA and 296_297delAG) in PROP1 gene. Combined somatic and neuroleptic treatment considerably improved the physical and psychic status of the patient, as well as strengthened her social functioning.

CONCLUSIONS: An exogenous, psychotic episode identified in the patient was induced by multihormonal hypopituitarism and disappeared after hormonal replacement therapy.