Results 31 to 40 of about 19,224 (187)
Congenital adrenal hyperplasia in men: classical form. Clinical case
Mìžnarodnij Endokrinologìčnij Žurnal, 2021 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
P.M. Liashuk +2 more
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Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia [PDF]
Endocrinology and Metabolism Clinics of North America, 2015 Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) occur in separate adrenal cortical ...
Richard J. Auchus, Adina F. Turcu
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GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report
BMC Pediatrics, 2022 Background Primary adrenal insufficiency in children has non-specific and extensive clinical features, so the diagnosis of its etiology is complex and challenging.
Yajie Tong +3 more
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Genetics of congenital adrenal hyperplasia [PDF]
Best Practice & Research Clinical Endocrinology & Metabolism, 2009 Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of one of four steroidogenic enzymes involved in cortisol biosynthesis or in the electron donor enzyme P450 oxidoreductase (POR) that serves as electron donor to steroidogenic ...
Nils Krone, Wiebke Arlt
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Biology of Sex Differences, 2011 Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations
Chalmers Laura J +5 more
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Congenital Adrenal Hyperplasia: A Review of Current Knowledge and Future Directions
Quality in SportIntroduction: Congenital adrenal hyperplasia (CAH) is a group of diseases in which genetic defects occur that disturb the synthesis of cortisol. The most common variant of CAH (95%-99%) is caused by 21-hydroxylase deficiency as a result of mutations in ...
Zuzanna Szczepaniak +7 more
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Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia
Frontiers in Endocrinology, 2020 Elevated 17-hydroxyprogesterone may be caused by congenital adrenal hyperplasia, ovarian or adrenal tumors. A positive cosyntropin stimulation test result for 17-hydroxyprogesterone may be found in functional or non-functional tumors and be related to ...
Wen-Hsuan Tsai +5 more
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Clinical Case Reports, 2023 Key Clinical Message Jacobs syndrome and congenital adrenal hyperplasia are separate entities but share common clinical features such as ambiguous genitalia.
Qaisar Ali Khan +9 more
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Clinical Case ReportsKey Clinical Message In previous reports, hypothyroidism, hypopituitrism, and hypogonadism were common endocrine causes of SCFE, but this is the first time that congenital adrenal hyperplasia has been observed.
Yi‐Fan Huang +2 more
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Кубанский научный медицинский вестник, 2017 Aim. To demostrate the complexity of the diagnosis and the consequences of the effect of insufficient hormone replacement therapy on the prognosis of the patient with the viril form of congenital adrenal cortical hyperplasia. Materials and methods.
L. A. IVANOV +5 more
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