先天性肾上腺皮质增生症由于 21-羟化酶缺乏导致的新生儿不存在正常产前生长和与 46,XY 性发育障碍相关的异常产前生长迟缓的性别差异。
Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
机构信息
Department of Pediatrics, The University of Oklahoma College of Medicine-Tulsa, Tulsa, OK 74135, USA.
出版信息
Biol Sex Differ. 2011 May 5;2:5. doi: 10.1186/2042-6410-2-5.
BACKGROUND
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations of below-optimal final height in both males and females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, prompted us to investigate prenatal growth in the latter group. Additionally, because girls with congenital adrenal hyperplasia are exposed to increased levels of androgens in the absence of a male sex-chromosome complement, the presence or absence of typical sex differences in growth of newborns would support or refute a hormonal explanation for these differences.
METHODS
In total, 105 newborns with congenital adrenal hyperplasia were identified in our database. Gestational age (weeks), birth weight (kg), birth length (cm) and parental heights (cm) were obtained. Mid-parental height was considered in the analyses.
RESULTS
Mean birth weight percentile for congenital adrenal hyperplasia was 49.26%, indicating no evidence of a difference in birth weight from the expected standard population median of 50th percentile (P > 0.05). The expected sex difference in favor of heavier males was not seen (P > 0.05). Of the 105 subjects, 44 (27%; 34 females, 10 males) had birth length and gestational age recorded in their medical chart. Mean birth length for this subgroup was 50.90 cm (63rd percentile), which differed from the expected standard population median of 50th percentile (P = 0.0082). The expected sex difference in favor of longer males was also not seen (P > 0.05).
CONCLUSION
The prenatal growth retardation patterns reported in cases of 46,XY disorders of sex development do not generalize to people with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Sex differences in body weight and length typically seen in young infants were not seen in the subjects who participated in this study. We speculate that these differences were ameliorated in this study because of increased levels of prenatal androgens experienced by the females infants.
背景
21-羟化酶缺陷导致的先天性肾上腺增生是遗传女性中最常见的性发育障碍（DSD）表现。有报道称，46,XY DSD 病例存在产前生长迟缓，并且 21-羟化酶缺陷导致的先天性肾上腺增生患者的最终身高均低于最佳水平，这促使我们对后者进行了产前生长研究。此外，由于患有先天性肾上腺增生的女孩在缺乏男性性染色体的情况下暴露于更高水平的雄激素，因此新生儿生长中是否存在或不存在典型的性别差异将支持或反驳这些差异的激素解释。
方法
我们在数据库中总共确定了 105 例患有先天性肾上腺增生的新生儿。获取了胎龄（周）、出生体重（kg）、出生身长（cm）和父母身高（cm）。在分析中考虑了中亲身高。
结果
先天性肾上腺增生的平均出生体重百分位为 49.26%，这表明出生体重与预期的标准人群中位数（第 50 百分位数）没有差异（P>0.05）。也没有看到预期的有利于更重男性的性别差异（P>0.05）。在 105 名受试者中，有 44 名（27%；34 名女性，10 名男性）的病历中记录了出生长度和胎龄。该亚组的平均出生长度为 50.90cm（第 63 百分位数），与预期的标准人群中位数（第 50 百分位数）不同（P=0.0082）。也没有看到预期的有利于更长男性的性别差异（P>0.05）。
结论
在 46,XY 性发育障碍病例中报道的产前生长迟缓模式并不适用于 21-羟化酶缺陷导致的先天性肾上腺增生患者。在本研究中，没有看到年轻婴儿中通常存在的体重和身长的性别差异。我们推测，由于女性婴儿经历了更高水平的产前雄激素，这些差异在本研究中得到了改善。
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