IVF children scored higher on standardized tests than their matched peers, suggesting that IVF does not have a negative effect on cognitive development. However, long-term follow-up of IVF children is still limited. Further research should be performed on the effect of multiple gestation on academic performance.
Objective-To present the clinical, biochemical, and genetic features of a male pseudohermaphrodite due to 17beta-hydroxysteroid dehydrogenase 3 (17beta-HSD3) deficiency.
Design-Case report.
Setting-University teaching hospital Gynecology practicePatient(s)-A 15-year-old black American male pseudohermaphrodite with 17beta-HSD3 deficiency.Intervention(s)-Laboratory evaluation, genetic mutation analysis, bilateral gonadectomy, hormone replacement.
Main Outcome Measure(s)-Endocrinologic evaluation and genetic analysis.Result(s)-A diagnosis of 17beta-HSD3 deficiency made on the basis of hormone evaluation was confirmed through genetic mutation analysis of the HSD17B3 gene. Female phenotype was attained after gonadectomy, passive vaginal dilatation, and hormone therapy.
Conclusion(s)-17beta-HSD3deficiency was diagnosed in this patient based on endocrinologic evaluation and confirmed with genetic mutation analysis. The patient was able to retain her female sexual identity after surgical and medical treatment.
Keywordspseudohermaphrodite; 17beta hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroid reductase deficiency
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