Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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DOI：
10.1093/humrep/den118
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发表时间：
2008-07-01
影响因子：
6.1
通讯作者：
Nordenskjold, A.
中科院分区：
文献类型：
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作者：
Hagenfeldt, K.;Janson, P. O.;Nordenskjold, A.
背景：先天性肾上腺增生症(CAH)妇女的妊娠率较低，关于怀孕和儿童的信息知之甚少。方法：在瑞典的一项研究中，对62名18-63岁的成年女性CAH患者和62名年龄匹配的对照组进行了随访。检查了包括怀孕和分娩在内的医疗记录，并记录了患者的21-羟基酶基因。所有妇女都回答了一份关于性健康和生殖健康，包括儿童健康的问卷。结果：CAH患者的妊娠率和分娩率显著降低(P<；0.001，P<；0.0056)，21-羟基酶突变的严重程度与出生婴儿数量的减少有关。更多患有盐耗性CAH的女性是单身，没有尝试过怀孕。妊娠是正常的，除了慢性肝炎患者妊娠期糖尿病的发生率显著增加(P<；0.0024)。这些儿童的出生体重正常，没有观察到畸形。后来对这些孩子的随访显示，他们的智力和社会发育正常。子代的性别比例差异很大，慢性肝炎组有25%的男孩，而对照组只有56%(P<；0.016)。CAH妇女绝经期妇科发病率较高。结论：CAH患者的妊娠率和分娩率降低，主要是由于心理社会原因。儿童的结果与对照组没有什么不同。患有CAH的母亲所生的孩子中出人意料的性别比值得进一步研究。
BACKGROUND: Low pregnancy rate has been reported in women with congenital adrenal hyperplasia (CAH) and little information on pregnancy and children is known. METHODS:In a Swedish study, 62 adult women with CAH, aged 18-63 years, and 62 age-matched controls were followed-up. Medical records, including those concerning pregnancies and deliveries, were examined and the 21-hydroxylase genotype of patients was noted. All women answered a questionnaire concerning sexual and reproductive health including health of the children. RESULTS: Pregnancy and delivery rates were significantly lower in women with CAH (P < 0.001, P < 0.0056, respectively), and the severity of the 21-hydroxylase-mutation correlated with the reduced number of children born. More women with salt-wasting CAH were single and had not attempted pregnancy. Pregnancies were normal except for a significantly increased incidence of gestational diabetes in CAH patients (P < 0.0024). The children had normal birthweight and no malformations were observed. A later follow-up of the children showed a normal intellectual and social development. The sex ratio of the offspring differed significantly, with 25% boys in the CAH group compared with 56% among controls (P < 0.016). CAH women had more gynaecological morbidity during menopause. CONCLUSIONS: Pregnancy and delivery rates are reduced in women with CAH mainly due to psychosocial reasons. The outcome of children did not differ from controls. The unexpected sex ratio in children born to mothers with CAH warrants further research.