Pregnancy and Prenatal Management of Congenital Adrenal Hyperplasia

被引:9
作者
Cera, Gianluca [1 ]
Locantore, Pietro [1 ]
Novizio, Roberto [1 ]
Maggio, Ettore [1 ]
Ramunno, Vittoria [1 ]
Corsello, Andrea [1 ]
Policola, Caterina [1 ]
Concolino, Paola [2 ]
Paragliola, Rosa Maria [1 ,3 ]
Pontecorvi, Alfredo [1 ]
机构
[1] Univ Cattolica Sacro Cuore, Dept Translat Med & Surg, Unit Endocrinol, Fdn Polidin A Gemelli IRCCS, Largo Gemelli 8, I-00168 Rome, Italy
[2] Univ Cattolica Sacro Cuore, Dept Lab & Infectiol Sci, Unit Clin Chem Biochem & Mol Biol, Fdn Polidin A Gemelli IRCCS, Largo Gemelli 8, I-00168 Rome, Italy
[3] St Camillus Int Univ Med Sci, Unicamillus, Via S Alessandro 10, I-00131 Rome, Italy
关键词
congenital adrenal hyperplasia; pregnancy; prenatal therapy; genetic testing; hydrocortisone; dexamethasone; prednisone; SUCCESSFUL LIVE BIRTH; DEXAMETHASONE TREATMENT; 21-HYDROXYLASE DEFICIENCY; HYDROXYLASE DEFICIENCY; TREATED PREGNANCIES; REST TUMORS; FOLLOW-UP; CHILDREN; WOMEN; RISK;
D O I
10.3390/jcm11206156
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases that may cause cortisol insufficiency together with other hormonal alterations. The most common form is 21-hydroxylase deficiency, in which the lack of pituitary negative feedback causes an increase in ACTH and adrenal androgens. Classical forms of CAHs can lead to severe adrenal failure and female virilization. To date, the appropriate management of pregnant CAH patients is still debated regarding appropriate maternal therapy modifications during pregnancy and the risks and benefits of prenatal treatment of the fetus. We conducted a literature search of relevant papers to collect current evidence and experiences on the topic. The most recent and significant articles were selected, and current international guidelines were consulted to update current recommendations and guide clinical practice. Given the lack of randomized clinical trials and other high-quality scientific evidence, the issue is still debated, and great heterogeneity exists in current practice in terms of risk/benefit evaluation and pharmacological choices for pregnancy and prenatal treatment. Glucocorticoid therapy is advised not only in classical CAH patients but also in non-classical, milder forms. The choice of which glucocorticoid to use, and the safety and benefits of dexamethasone therapy aimed at preventing genital virilization are still debated issues. Several advances, however, have been made, especially in terms of fertility and reproduction. This review aims to present the most recent scientific and real-world updates on pregnancy and prenatal management of CAH, with the presentation of various clinical scenarios and specific case-by-case recommendations.
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页数:16
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