TY - JOUR
T1 - 46,XY Karyotype in a Female Phenotype Fetus: A Challenging Diagnosis
AU - Russo, Gianni
AU - di Lascio, Alessandra
AU - Ferrario, Matilde
AU - Meroni, Silvia
AU - Hiort, Olaf
AU - Chiumello, Giuseppe
N1 - Copyright:
Copyright 2013 Elsevier B.V., All rights reserved.
PY - 2012/6
Y1 - 2012/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84860795738&partnerID=8YFLogxK
U2 - 10.1016/j.jpag.2012.03.001
DO - 10.1016/j.jpag.2012.03.001
M3 - Journal articles
C2 - 22578489
AN - SCOPUS:84860795738
SN - 1083-3188
VL - 25
SP - e77-e79
JO - Journal of Pediatric and Adolescent Gynecology
JF - Journal of Pediatric and Adolescent Gynecology
IS - 3
ER -