Individuals with a 47,XXY karyotype usually present with a male phenotype due to the additional Y chromosome. In this paper, we describe a 47,XXY female who was pregnant with a fetus of the same karyotype based on chromosome analysis of amniotic fluid cells. Further analysis of her Y chromosome indicated that the additional Y chromosome contains no SRY gene on the short arm but carries the azoospermia factor region on the long arm, including azoospermia factor a, b and c (AZFa, AZFb, AZFc). This region may influence her female phenotype. Fertile females with a 47,XXY karyotype and loss of SRY are extremely rare. This paper is the first report of a 47,XXY pregnant woman with a normal phenotype and may enrich our knowledge on 47,XXY individuals.

Keywords:
47,XXY, SRY, Y chromosome
1.
Bartsch-Sandhoff M, Stephan L, Rohrborn G, Pawlowitzki IH, Scholz W: [A case of testicular feminization with the karyotype 47,XXY (author's transl)]. Hum Genet 31:59-65 (1976).
2.
Case LK, Wall EH, Dragon JA, Saligrama N, Krementsov DN, et al: The Y chromosome as a regulatory element shaping immune cell transcriptomes and susceptibility to autoimmune disease. Genome Res 23:1474-1485 (2013).
3.
Frühmesser A, Kotzot D: Chromosomal variants in Klinefelter syndrome. Sex Dev 5:109-123 (2011).
4.
Gerli M, Migliorini G, Bocchini V, Venti G, Ferrarese R, et al: A case of complete testicular feminisation and 47,XXY karyotype. J Med Genet 16:480-483 (1979).
5.
German J, Vesell M: Testicular feminization in monozygotic twins with 47 chromosomes (XXY). Ann Genet 9:5-8 (1966).
6.
Girardin CM, Deal C, Lemyre E, Paquette J, Lumbroso R, et al: Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype. J Pediatr 155:439-443 (2009).
7.
Jacobs PA, Hassold TJ, Whittington E, Butler G, Collyer S, et al: Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet 52:93-109 (1988).
8.
Khandelwal A, Agarwal A, Jiloha RC: A 47,XXY female with gender identity disorder. Arch Sex Behav 39:1021-1023 (2010).
9.
Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E: Klinefelter's syndrome. Lancet 364:273-283 (2004).
10.
Li H, Zhang K, Gao M, Zhang H, Wang Y, et al: [Analysis of genetic etiology of a female with 47, XXY syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 34:102-105 (2017).
11.
Lin B, Tan F, Xu H, Wang P, Tang Q, et al: De novo structure variations of the Y chromosome in a 47,XXY female with ovarian failure: a case report. Cytogenet Genome Res 143:221-224 (2014).
12.
Maan AA, Eales J, Akbarov A, Rowland J, Xu X, et al: The Y chromosome: a blueprint for men's health? Eur J Hum Genet 25:1181-1188 (2017).
13.
Molina E, Clarence EM, Ahmady F, Chew GS, Charchar FJ: Coronary artery disease: why we should consider the Y chromosome. Heart Lung Circ 25:791-801 (2016).
14.
Müller U, Schneider NR, Marks JF, Kupke KG, Wilson GN: Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization. Hum Genet 84:289-292 (1990).
15.
Rottger S, Schiebel K, Senger G, Ebner S, Schempp W, Scherer G: An SRY-negative 47,XXY mother and daughter. Cytogenet Cell Genet 91:204-207 (2000).
16.
Saavedra-Castillo E, Cortes-Gutierrez EI, Davila-Rodriguez MI, Reyes-Martinez ME, Oliveros-Rodriguez A: 47,XXY female with testicular feminization and positive SRY: a case report. J Reprod Med 50:138-140 (2005).
17.
Simpson JL, Rajkovic A: Ovarian differentiation and gonadal failure. Am J Med Genet 89:186-200 (1999).
18.
Thangaraj K, Gupta NJ, Chakravarty B, Singh L: A 47,XXY female. Lancet 352:1121 (1998).
19.
Uehara S, Tamura M, Nata M, Kanetake J, Hashiyada M, et al: Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome. Am J Med Genet 86:107-111 (1999).
© 2019 S. Karger AG, Basel
2019
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.