Адреногенітальний Синдром: Молекулярні Механізми Розвитку

Pishak, V. P.; Ryznychuk, М. О.

doi:10.22141/2224-0721.13.2.2017.100612

Cited by 3 publications

(3 citation statements)

References 33 publications

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“…Consequently, a decrease in blood cortisol level, an increase in ACTH, free testosterone, androstenedione, DHEAS and 17-OH progesterone levels are characteristic of adrenal hyperandrogenism. Laboratory indicators of 21-hydroxylase deficiency may not go beyond the reference values, with the exception of 17-OH progesterone, which is considered a marker of deficiency of this enzyme: its blood content of > 100 ng/ml indicates the classic version of CAH (normally < 2.0 ng/ml), and a level of 10-100 ng/ml confirms the diagnosis of CAH [6,7].…”

Section: Clinical Casementioning

confidence: 99%

“…Treatment of the classic forms of congenital adrenal hyperplasia due to 21-OH deficiency is based on two pillars: the first is glucocorticoid and mineralocorticoid replacement and the second is androgen control [5,6].…”

Section: Clinical Casementioning

confidence: 99%

“…Our patient received glucocorticoid replacement the rapy (prednisolone 5 mg) in the morning. In women with non-classical congenital adrenal hyperplasia who are infertile or have a history of prior miscarriage, we recommend treatment with glucocorticoid that does not traverse the placenta [6].…”

Section: Clinical Casementioning

confidence: 99%

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Non-classical congenital adrenal hyperplasia. Clinical case

Liashuk

Lіаshuk

Marchuk

et al. 2023

Mìžnarodnij endokrinologìčnij žurnal

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Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemical shifts in the production of glucocorticoids, mineralocorticoids, or sex steroids from cholesterol by the adrenal glands. Universal newborn screening for CAH is recommended for early diagnosis and initiation of therapy. The development of CAH is due to a defect in the CYP21 gene, which encodes 21-hydroxylase enzyme involved in the synthesis of cortisol. This leads to an increase in the secretion of adrenocorticotropic hormone and the accumulation of cortisol precursors, which are converted into adrenal androgens — the classical form of the disease develops. With a point mutation of the CYP21 gene, an incomplete defect occurs in 21-hydroxylase, which leads to an unpronounced disorder of adrenal steroidogenesis — a non-classical form of congenital adrenal hyperplasia, which happens more often. In this form, the clinical symptoms are erased with moderate hirsutism, acne vulgaris, infertility. In comparison to the classical form of the disease, which is diagnosed at birth or during the neonatal period because of ambiguous genitalia and/or salt-wasting symptoms or through screening programs used in some countries, most cases of non-classical CAH are not easy to detect. Additionally, many individuals remain asymptomatic during childhood and adolescence, have normal reproductive function, and only become aware of non-classical CAH due to the diagnosis of another family member and consequent testing. However, most women with non-classical CAH seek medical assistance when they experience symptoms of androgen excess and, when clinical suspicion prompts testing, elevated basal 17-OH progesterone levels may primarily point to the diagnosis of non-classical CAH. A case of a non-classical form of the disease which manifested itself in infertility is given. Pregnancy occurred after 4 months treatment with prednisolone (5 mg/day).

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Section: Clinical Casementioning

confidence: 99%

Section: Clinical Casementioning

confidence: 99%

See 1 more Smart Citation

Non-classical congenital adrenal hyperplasia. Clinical case

Liashuk

Lіаshuk

Marchuk

et al. 2023

Mìžnarodnij endokrinologìčnij žurnal

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Congenital adrenal hyperplasia in men: classical form. Clinical case

Ляшук

Stankova

Lіаshuk

2021

Mìžnarodnij endokrinologìčnij žurnal

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Recently, in the foreign scientific literature there have been reports that boys and young men with the classic virile form of congenital adrenal hyperplasia or congenital dysfunction of the adrenal cortex as a result of inadequate glucocorticoid therapy in 21–28 % of cases have testicular adrenal rest tumors, which increases under the influence of excessive production of adrenocorticotropic hormone (ACTH). This benign formation up to 2 cm in diameter and larger is detected by palpation and ultrasound. The formations can press on the testicular tissue and lead to hypogonadism. Such individuals may have low testosterone levels due to decreased Leydig cell function. Testicular adrenal rest tumors usually decrease after treatment optimization. Unreasonable surgery is sometimes performed in suspected cancer. A clinical case is presented of the classic form of congenital adrenal hyperplasia, manifested itself in isosexual precocious puberty, cryptorchidism and testicular adrenal rest tumors rare, increased under the influence of excessive ACTH production as a result of inadequate glucocorticoid replacement therapy. Formations detected during ultrasound decrease when treatment is optimized. Observation of the patient in the dynamics showed that ones of the main diagnostic hormonal tests are blood levels of ACTH and 17-hydroxyprogesterone, which at the time of disease detection were excessively high. Continuous glucocorticoid replacement therapy maintains the level of these indicators within the reference values. Timely diagnosis of the nature of the pathology, constant corrective hormone therapy ensured the patient’s ability to adapt to life and society in accordance with his status. Clinical manifestations of hypocorticism and/or hyperandrogenism in the parents of our patient were not detected, which indicates autosomal recessive inheritance of congenital adrenal hyperplasia. In the future, it is important to provide genetic counseling to expectant parents, especially with manifestations of hyperandrogenism, to assess the possible development of such pathology in their offspring.

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Late acne in women: patients of gynecologists, endocrinologists or dermatologists?

Golousenko

2021

Consilium Medicum

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The article raises the problem of late acne in women. As a result of observation of 326 patients aged 20 to 40 years, evaluation of the data of a significant number of laboratory and instrumental tests, it was found that 257 (79%) women had hyperandrogenism of various etiologies. On the basis of which, 6 groups of patients were identified, which allows applying etiological treatment. It is concluded that only the cooperation of dermatovenerologists, gynecologists, endocrinologists can help an increasing number of such patients.

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Адреногенітальний Синдром: Молекулярні Механізми Розвитку

Cited by 3 publications

References 33 publications

Non-classical congenital adrenal hyperplasia. Clinical case

Non-classical congenital adrenal hyperplasia. Clinical case

Congenital adrenal hyperplasia in men: classical form. Clinical case

Late acne in women: patients of gynecologists, endocrinologists or dermatologists?

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