Van't Westeinde Annelies, Karlsson Leif, Messina Valeria, Wallensteen Lena, Brösamle Manuela, Dal Maso Giorgio, Lazzerini Alessandro, Kristensen Jette, Kwast Diana, Tschaidse Lea, Auer Matthias K, Nowotny Hanna F, Persani Luca, Reisch Nicole, Lajic Svetlana
Department of Women's and Children's Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden.
European Patient Advocacy Group for Adrenal Diseases, European Reference Network on Rare Endocrine Conditions (Endo ERN), Endo ERN Coordinating Centre, Leiden, The Netherlands.
Endocr Connect. 2023 Mar 15;12(4). doi: 10.1530/EC-22-0400. Print 2023 Apr 1.
First-trimester prenatal treatment with glucocorticoid (GC) dexamethasone (DEX) in pregnancies at risk for classic congenital adrenal hyperplasia (CAH) is associated with ethical dilemmas. Though effective in reducing virilisation in girls with CAH, it entails exposure to high doses of GC in fetuses that do not benefit from the treatment. The current paper provides an update on the literature on outcomes of prenatal DEX treatment in CAH cases and unaffected subjects. Long-term follow-up research is still needed to determine treatment safety. In addition, advances in early prenatal diagnostics for CAH and sex-typing as well as studies assessing dosing effects of DEX may avoid unnecessary treatment and improve treatment safety.
对于有经典型先天性肾上腺皮质增生症(CAH)风险的妊娠,在孕早期使用糖皮质激素(GC)地塞米松(DEX)进行产前治疗存在伦理困境。尽管DEX在减少CAH女孩的男性化方面有效,但它会使未从该治疗中获益的胎儿暴露于高剂量的GC中。本文提供了关于CAH病例和未受影响受试者产前DEX治疗结果的文献综述。仍需要长期随访研究来确定治疗安全性。此外,CAH早期产前诊断和性别鉴定方面的进展以及评估DEX剂量效应的研究可能会避免不必要的治疗并提高治疗安全性。