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  • Title: 46,XY karyotype in a female phenotype fetus: a challenging diagnosis.
    Author: Russo G, di Lascio A, Ferrario M, Meroni S, Hiort O, Chiumello G.
    Journal: J Pediatr Adolesc Gynecol; 2012 Jun; 25(3):e77-9. PubMed ID: 22578489.
    Abstract:
    BACKGROUND: The growing use of prenatal investigations allows an early detection of several inborn disorders, including disorders of sexual development. The management of these conditions is an arising problem. CASE: 46,XY karyotype and female phenotype were detected in a fetus; 5α-reductase and androgen receptor gene analysis on chorionic villi revealed no relevant mutation. The newborn was assigned to female sex. The diagnosis of 17β-hydroxysteroid dehydrogenase-3 β-OL deficiency was reached at four months of age, by means of a low testosterone/Δ 4-androstenedione ratio after HCG test and HSD17B3 gene analysis. SUMMARY AND CONCLUSION: A 46,XY fetus with female external genitalia suggests different conditions, some very rare. Specific genetic investigations should be performed prenatally when possible. A complete evaluation is mandatory after delivery to reach a correct diagnosis.
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