期刊
EUROPEAN JOURNAL OF ENDOCRINOLOGY
卷 184, 期 2, 页码 R85-R97出版社
BIOSCIENTIFICA LTD
DOI: 10.1530/EJE-20-1093
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- Deutsche Forschungsgemeinschaft [325768017]
Gonadal dysfunction in congenital adrenal hyperplasia patients can lead to menstrual disturbances, impaired fertility, and hormonal imbalances. Optimal hormonal control is essential to maintain adequate gonadal function.
Gonadal dysfunction is an adverse outcome in patients with congenital adrenal hyperplasia (CAH), which may become apparent already during puberty. Clinical consequences of gonadal dysfunction include menstrual disturbances in females and hypogonadism and impaired fertility in males and females. In males, gonadal dysfunction can be caused by primary gonadal failure due to testicular adrenal rest tumours (TART), and by secondary gonadal failure due to poor hormonal control. In females, gonadal dysfunction can result from an overproduction of adrenal androgens including 11-oxygenated C-19 androgens and progestins, and rarely from ovarian adrenal rest tumours. In all patients with CAH, optimal hormonal control is the key for adequate gonadal function. Therefore, regular measurements of adrenal steroids and/or their metabolites should be performed. In addition, markers of the hypothalamus-pituitary-gonadal axis need to be assessed. In females, the regularity of the menstrual cycle should be evaluated. In males, regular evaluation for TART using ultrasonography is recommended from the start of puberty or even earlier when poor hormonal control is present. When TART is present, counselling on cryopreservation of semen should be offered.
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