Abstract
Prenatal diagnosis and treatment has been carried out since 1986. The prenatal diagnosis is based on DNA analysis of fetal tissue obtained by amniocentesis or chorionic villus biopsy. Because the genetic analysisis usually not available before treatment with low-dose dexamethasone, all fetuses are treated until the diagnosis of CAH is genetically secured. Congenital adrenal hyperplasia is transmitted as an autosomal recessive trait; both male and female fetuses are at risk. As only affected female fetuses require treatment and male fetuses and unaffected female fetuses do not require treatment, seven out of eight fetuses are temporarily treated unnecessarily. We have evaluated the long-range effect of prenatal low-dose dexamethasone treatment in male and female fetuses who are now 12 years and older. The data include male and female fetuses treated or not treated with low-dose dexamethasone treatment. The following parameters were evaluated: (1) medical outcome including diabetes, hypertension, and fractures and (2) psychoendocrine outcome including cognition, gender, behavior, and performance. This was a collaboration between the USA (indicated as A) and France (indicated as Fr). The number of patients with CAH both males and females who were studied, including patients salt wasting CAH (SW), patients with the simple virilizing form of CAH (SV), and patients with non-classical CAH (NC), and patients not affected with CAH (no CAH) is depicted in this chapter. There were 78 patients who were not treated, 4 who were partially treated, and 14 who were treated throughout pregnancy for a total of 136 patients
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Preliminary medical results are presented in Figs. 7.1, 7.2, and 7.3. Reported fractures in those prenatally treated were less frequent than those who reported fractures. The data do not show any apparent difference in the rate of fractures between those prenatally treated with dexamethasone and those not prenatally treated. With respect to obesity there is no evidence that those who were treated with dexamethasone prenatally had a higher BMI than those not treated. Hypertension was infrequent and the blood pressure in one patient who was treated was no different from the other patient who was not treated. There were no patients with diabetes observed in the long-term follow-up.
Preliminary psychoendocrine outcome including cognition, gender, behavior, and performance revealed a marginal difference between dexamethasone exposed versus dexamethasone unexposed affected females. Feminine hobby preference and female gender behavior were increased in the dexamethasone exposed group. There was no psychoendocrine difference in dexamethasone exposed or unexposed males whether affected or unaffected with CAH (Table 7.1). Based on the Behavior Problem Scale no significant changes between dexamethasone exposed and dexamethasone unexposed affected males or females were seen except that the dexamethasone unexposed patients had significantly higher attention problems (P < 0.02) and were marginally more aggressive (P < 0.095). There were no differences in the education outcome in those treated or untreated.
Summary: These preliminary data show no obvious detrimental effects in patients treated with low-dose dexamethasone prenatally.
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© 2011 Springer Science+Business Media, LLC
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New, M.I., Parsa, A.A. (2011). Long Range Outcome of Prenatal Treatment. In: New, M., Simpson, J. (eds) Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference. Advances in Experimental Medicine and Biology, vol 707. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-8002-1_7
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DOI: https://doi.org/10.1007/978-1-4419-8002-1_7
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