Loeuille G A, David M, Forest M G
Service de Génétique et Maladies Héréditaires du Métabolisme de l'Enfant, Hôpital Claude Huriez, Lille, France.
Eur J Pediatr. 1990 Jan;149(4):237-40. doi: 10.1007/BF02106280.
A mother at risk for 21-hydroxylase deficiency was treated with oral dexamethasone (0.5 mg 12 hourly) from early pregnancy, in an attempt to prevent in utero virilization in case of a female fetus. Fetal karyotype was 46,XX, and because of a possible intra HLA recombination, treatment was continued to term. The newborn had a modest virilization and hormonal studies confirmed the diagnosis of congenital adrenal hyperplasia (CAH). This observation and review of the literature suggest that efficient prenatal treatment of CAH requires a higher and more frequent dosage of dexamethasone.
一位有21-羟化酶缺乏风险的母亲从妊娠早期开始接受口服地塞米松治疗(每12小时0.5毫克),以防止女性胎儿在子宫内发生男性化。胎儿核型为46,XX,由于可能存在HLA内重组,治疗持续至足月。新生儿有轻度男性化,激素研究证实了先天性肾上腺皮质增生症(CAH)的诊断。这一观察结果和文献综述表明,有效的CAH产前治疗需要更高且更频繁剂量的地塞米松。