Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka

Translated title of the contribution: Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia

Doleschall Márton, Török Dóra, Mészáros Katalin, Luczay Andrea, Halász Zita, Németh Krisztina, Szücs Nikolette, Kiss Róbert, Tke Judit, Sólyom János, Fekete György, A. Patócs, P. Igaz, Tóth Miklós

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Congenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking part in the steroido-genesis of adrenal gland. Steroid 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations of the steroid 21-hydroxylase gene. The mutations of steroid 21-hydroxylase gene cause 95% of the congenital adrenal hyperplasia cases. Although the non-classic steroid 21-hydroxylase deficiency with mild symptoms is seldom diagnosed, the classic steroid 21-hydroxylase deficiency may lead to life-threatening salt-wasting and adrenal crises due to the insufficient aldosterone and cortisol serum levels. The classic type requires life-long steroid replacement which may result in cushingoid side effects, and typical comorbidities may be also developed. The patients’ quality of life is decreased, and their mortality is much higher than that of the population without steroid 21-hydroxylase deficiency. The diagnosis, consequences and the patients’ life-long clinical care require a multidisciplinary approach: the specialists in pediatrics, internal medicine, endocrinology, laboratory medicine, genetic diagnostics, surgery, obstetrics-gynecology and psychology need to work together.

Translated title of the contributionSteroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia
Original languageHungarian
Pages (from-to)269-277
Number of pages9
JournalOrvosi Hetilap
Volume159
Issue number7
DOIs
Publication statusPublished - Feb 1 2018

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia'. Together they form a unique fingerprint.

  • Cite this

    Márton, D., Dóra, T., Katalin, M., Andrea, L., Zita, H., Krisztina, N., Nikolette, S., Róbert, K., Judit, T., János, S., György, F., Patócs, A., Igaz, P., & Miklós, T. (2018). Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka. Orvosi Hetilap, 159(7), 269-277. https://doi.org/10.1556/650.2018.30986