Abstract
BackgroundCongenital 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.MethodsIn 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.ResultsMean 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).ConclusionThe 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.
Highlights
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females
Low birth weight is more common in newborns with isolated hypospadias [1,2,3,4,5,6,7,8,9] and in genetic males with a disorder of sex development (DSD) [10], when the DSD is idiopathic in nature [11,12,13,14]
Subjects with Congenital adrenal hyperplasia (CAH) due to 21hydroxylase deficiency were identified from each institution and reviewed (105 in total)
Summary
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. Several reports have suggested an association between low birth weight and atypical development of the male reproductive system. Male newborns have a greater head circumference and less body fat than females, as indicated by decreased skin-fold thickness and wholebody plethysmography [16]. Together, these observations point to the possibility that lower levels of androgen production or action in utero that would be expected for a male contributes to undermasculinization of the male reproductive system, and to decreased anthropometric measures in newborns [7]. Some newborns who are born small fail to achieve catch-up growth as they develop
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