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EN
The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis with associated androgen excess due to a deficiency of one or more enzymes in the steroidogenesis process within the adrenal cortex. The most common and prototypical example of the CAH disorders group (90-95%) is caused by 21-hydroxylase deficiency. Less frequent types of CAH are 11β-hydroxylase deficiency (up to 8% of cases), 17α-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, P450 oxidoreductase deficiency and StAR deficiencies. In the 21-hydroxylase and 11β-hydroxylase deficiency, only adrenal steroidogenesis is affected, whereas a defect in 3β-hydroxysteroid dehydrogenase or 17α-hydroxylase also involves gonadal steroid biosynthesis. Many countries have introduced newborn screening programs based on immunoassays measuring 17-hydroxyprogesterone from blood spots used for other neonatal screening tests which enable faster diagnosis and treatment of CAH. Currently, chromatographic techniques coupled with mass spectrometry are gaining popularity due to an increase in the reliability of the test results.
PL
Tkanka tłuszczowa pełni aktywną funkcję wydzielniczą i uznana jest za największy gruczoł endokrynny organizmu. Adipocyty produkują i wydzielają do krwiobiegu szereg hormonów białkowych zwanych adipokinami, m.in apelinę. Hormon ten jest znanym endogennym ligandem dla receptora APJ. Ekspresję zarówno apeliny jak i jej receptora APJ wykazano w wielu tkankach, takich jak: żołądek, mózg, serce, płuca, macica czy jądra. Rolę apeliny opisano w licznych procesach fizjologicznych, jak również w patofizjologii niektórych chorób metabolicznych. Badania ostatnich lat sugerują, iż apelina reguluje również funkcje rozrodcze samic. W artykule przedstawiono aktualny stan wiedzy na temat poziomu apeliny/APJ w komórkach jajnika zarówno człowieka, jak i wielu gatunków zwierząt, a także opisano jej rolę w regulacji funkcji pęcherzyka jajnikowego i ciałka żółtego. Omówione prace jednoznacznie wskazują, na zależną od badanego gatunku ekspresję apeliny/APJ w różnych strukturach jajnika oraz rolę apeliny w procesie steroidogenezy czy apoptozy, sugerując iż jajnik jest docelową tkanką działania apeliny.
EN
Adipose tissue plays an active secretory function and is considered as the largest endocrine gland of the body. Adipocytes produce and secrete into the bloodstream a number of protein hormones called adipokines, such as apelin. This hormone is a known endogenous ligand for APJ receptor. The expression of both apelin and the APJ receptor has been demonstrated in many tissues such as stomach, brain, heart, lung, uterus or testis. The role of apelin has been described in numerous physiological processes in the body, as well as in the pathophysiology of certain metabolic diseases. Recent studies suggest that apelin also regulates female reproductive functions. The article presents the actual state of knowledge on the level of apelin/APJ in the ovarian cells of both the humans and many animal species, as well as the role of apelin in regulation the ovarian follicle and corpus luteum functions. The presented data clearly indicates, dependent on the species expression of apelin/APJ in various structures of ovary and the role of apelin in steroidogenesis and apoptosis, suggesting that ovary is the target tissue for apelin action.
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