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.

[Transferase S-glutathione class pi gene (GSTP1) polymorphism in thyroid cancer patients]. / Polimorfizm genu transferazy S-glutationu klasy pi (GSTP1) u chorych z rakiem tarczycy.

INTRODUCTION: One of the potential genes which can increase the risk of cancer is GSTP1 gene. It encodes enzyme called glutathione S-transferase pi class, which is involved in the detoxification of a variety of potential carcinogenic compounds. Polymorphism in this gene can cause the amino acid substitution. This substitution, close to the substrate binding site, changes the enzymatic activity for particular substrates and subsequently increases the risk of carcinogenesis. The aim of this study was to evaluate the function of GSTP1 polymorphism in thyroid cancer and possible association between GSTP1 polymorphism and age at diagnosis. MATERIAL AND METHODS: 103 patients with differentiated thyroid cancer (DTC) and 53 individuals from control group were examined using PCR-RFLP. RESULTS: Statistically insignificant association of studied polymorphisms with thyroid cancer was observed. Comparison of allele frequency between cases and control groups revealed the presence of risk alleles. For the first polymorphism Ile OR = 1.257; 95% CI [0.792-1.997] (p = 0.332), and for the second one Val OR = 1.283; 95% CI [0.6260-2.631] (p = 0.495). The presence of Val/Val (c.313A>G) led to a significant earlier age of onset as compared with other genotypes (p < 0.05). Mean age at diagnosis for Val/Val genotype was 41.1 +/- 15.2, and for Ile/Val + Ile/Ile reached 48.9 +/- 13.2. There was no association between age and genotype for c.341C>T polymorphism. CONCLUSIONS: Statistically insignificant association of GSTP1 gene polymorphism with thyroid cancer was observed in studied group of patients. The Val/Val genotype for c.313A>G polymorphism led to earlier age of tumour diagnosis as compared with other genotypes.