A difficult endocrinological patient in oncological practice. Own clinical obseration

Abstract

Klinefelter syndrome is a genetic disease in males (1 per 1000 newborns) due to the presence of a doubled X chromosome in the karyotype (47XXY karyotype), the most common cause of primary hypogonadism. It is characterized by polymorphism of clinical manifestations, the most common of which are primary male infertility, obesity, metabolic syndrome, type 2 diabetes mellitus, osteopenia and osteoporosis. Clinical variability leads to the development of associated conditions against the background of changes in hormonal regulation and observation by different specialists, as a result – to late diagnosis of the syndrome. Endogenous hypercorticism in 20–30 % is caused by Itsenko – Cushing's syndrome, in the structure of which about 70–80 % are unilateral adrenal adenomas (corticosteromas). ACTH-independent hypercorticism leads to a number of metabolic and cardiovascular disorders, including abdominal obesity, arterial hypertension, steroid diabetes, and osteoporosis. Long-term suppression of ACTH, according to the feedback principle, leads to suppression of the secretion of hormones of the pituitary endocrine glands (including sex steroids). The clinical observation illustrates the complex pathophysiological disorders that occur when the hypothalamic-pituitary-adrenal / gonadal axis is disturbed in a combination of two syndromes, as well as the importance of a comprehensive examination of endocrinological patients.

Keywords

Klinefelter syndrome / Itsenko – Cushing's syndrome / corticosteroma / primary hypogonadism

References

[1] Bespalyuk D.A., CHugunov I.S. Sindrom Klajnfel'tera u detej i podrostkov. Problemy Endokrinologii 2018; 64 (5): 321–328.

[2] Беспалюк Д.А., Чугунов И.С. Синдром Клайнфельтера у детей и подростков. Проблемы эндокринологии 2018; 64 (5): 321–328.

[3] Groth K.A., Skakkebæk A., Høst C. et al. Clinical review: Klinefel ter syndrome – a clinical update. J Clin Endocrinol Metab. 2013; 98 (1): 20–30.

[4] Mamedova E.O., Vasil'ev E.V., Petrov V.M., Izmajlova N.S., Buryakina S.A., Rozhinskaya L.YA., Tyul'pakov A.N., Belaya ZH.E. Nasledstvennyj sindrom Icenko – Kushinga kak sledstvie pervichnoj dvustoronnej makronodulyarnoj giperplazii nadpochechnikov, obuslovlennyj mutaciej v gene ARMC5, v sochetanii s pervichnym giperparatireozom: pervoe opisanie v Rossii. Problemy endokrinologii 2019; 65 (2): 89–94 (in Russian).

[5] Мамедова Е.О., Васильев Е.В., Петров В.М., Измайлова Н.С., Бурякина С.А., Рожинская Л.Я., Тюльпаков А.Н., Белая Ж.Е. Наследственный синдром Иценко – Кушинга как следствие первичной двусторонней макронодулярной гиперплазии надпочечников, обусловленный мутацией в гене ARMC5, в сочетании с первичным гиперпаратиреозом: первое описание в России. Проблемы эндокринологии 2019; 65 (2): 89–94.

[6] Mel'nichenko G.A., Dedov I.I., Belaya ZH.E. et al. Bolezn' Icenko – Kushinga: klinika, diagnoseti-ka, differencial'naya diagnostika, metody lecheniya. Problemy endokrinologii 2015; 61 (2): 55–77 (in Russian).

[7] Мельниченко Г.А., Дедов И.И., Белая Ж.Е. и др. Болезнь Иценко – Кушинга: клиника, диагностика, дифференциальная диагностика, методы лечения. Проблемы эндокринологии 2015; 61 (2): 55–77.

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