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2.
Endokrynol Pol ; 70(5): 445-452, 2019.
Article in English | MEDLINE | ID: mdl-31681967

ABSTRACT

Pituitary tumours are a common pathology affecting 15-20% of the population. Only about 1‰ of adenomas are clinically manifested; among them, about two/thirds are hormonally active, most often secreting prolactin or growth hormone. Pituitary tumours are mainly an isolated pathology, without any genetic background. However, the latest studies pay special attention to the possibility of developing an adenoma as a result of genetic mutation. Among pituitary adenomas, the leading group of genetically determined lesions is related to a mutation in AIP or MEN1, followed by PRKAR1A, GRP101, DICER, and SDHx. The genetic basis of these pituitary tumours is related to positive family history, young age of the patient, aggressive clinical process, and resistance to treatment. Pituitary tumours occur in over 40% of patients with MEN1 syndrome - often in women, they are more than 1 cm in diameter, and secrete prolactin. They are usually diagnosed in the fourth decade of life and show a worse response to pharmacotherapy than sporadic ones. Confirmation of the genetic background of the pituitary tumour implies measurable implications; it might help to direct the diagnosis in patients' family members, partially predict the development of the disease, and, above all, extend patients' life expectancy.


Subject(s)
Adenoma/etiology , Multiple Endocrine Neoplasia Type 1/genetics , Pituitary Neoplasms/etiology , Adenoma/genetics , Female , Gene Deletion , Humans , Loss of Heterozygosity , Male , Pituitary Neoplasms/genetics
3.
Endokrynol Pol ; 70(3): 260-269, 2019.
Article in English | MEDLINE | ID: mdl-31290557

ABSTRACT

Hypophysitis is a broad term used to describe conditions leading to inflammation of the pituitary gland and the pituitary stalk. It may develop as a primary condition or secondary to other diseases. Hypophysitis is classified based on aetiological, anatomical, and histological criteria. Clinical symptoms result from enlargement of the pituitary gland, hormonal deficiencies, diabetes insipidus, and hyperprolactinemia. Histopathological verification of tissue samples from a pituitary biopsy remains the gold standard in diagnosing hypophysitis. However, due to the invasiveness and risk of the procedure it is rarely performed. The diagnosis is based mainly on clinical presentation, laboratory tests, and imaging. The rarity of the disease and the deficit in reliable data result in a lack of clear guidelines in the treatment of hypophysitis. The basic therapy relies on hormonal replacement. High doses of steroids are the first-line treatment of symptoms caused by mass effect in sella and compression of surrounding structures. In steroid-resistant patients or in cases of inacceptable sides effects, treatment with other immunosuppressant drugs was administered with success. The course of the disease varies: some patients present remission, in other cases hypophysitis leads to fibrosis and atrophy of the pituitary gland, which is reflected in persistent hormonal deficiencies and images of an empty sella. The objective of this article is to present the most important information: the epidemiology, clinical image, diagnostic procedures, and treatment of primary hypophysitis, in order to allow better understanding of this disease and implementation of proper management. Posttraumatic and immunotherapyrelated hypophysitis are also briefly characterised.


Subject(s)
Hypophysitis/diagnosis , Female , Humans , Hypophysitis/drug therapy , Hypophysitis/pathology , Hypopituitarism , Male
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