EJMCR. 2019; 3(2): 68-73

Next-generation DNA sequencing in an appropriate sex assignment: Case report of two phenotypically similar patients with 46, XY disorder of sex development.

Authors: Irina L. Nikitina, Elena K. Kudryashova, Ruslan R. Batrutdinov, Anna A. Kostareva, Igor A. Kelmanson, Elena N. Grineva.

ABSTRACT

Background. Disorders of sex development (DSD) are known as the inborn atypical development of chromosomal, gonadal, or anatomic sex. New opportunities in counseling DSD patients have emerged with an advent of the next generation DNA sequencing (NGS) techniques. Case presentation. Two clinical 46, XY DSD cases having similar phenotypical features, including ambiguous genitalia, are presented in this paper. In the first patient, no causative variant was found, meanwhile, a heterozygous variant in the CHD 7 gene considered as likely-benign was identified (chr8:61693942, rs377139749, NM_017780.3:c.2053_2058dupGCAAAA p.Lys686_Thr687insAlaLys). Neither gonadal ability to produce androgens, nor tissue androgen sensitivity was impaired, therefore leading to a decision to maintain the initially assigned male sex in this patient. In the other patient, the study revealed previously reported heterozygous missense variant in the SEMA3A gene (chr7:83636785, rs769957117, NM_006080.2:c.–ź1024G:p.Met342Val) responsible for HH type 16 (OMIM 614897). As well, a novel hemizygous variant in the AR gene (chrX:66942818, AR:NM_000044:c.G2599C:p.Val867Leu) was identified. In conjunction with the features of HH, this leads to a decision to reassign the sex of rearing to a female. Conclusion. NGS technique may be helpful in optimal sex assignment in DSD cases.

Keywords:
case report, disorders of sex development, next-generation sequencing, genes, genital ambiguity, gene variants


View PDF
Next-generation DNA sequencing in an appropriate sex assignment: Case report of two phenotypically similar patients with 46, XY disorder of sex development.


Authors
Irina L Nikitina
Department of Children's Diseases, Institute for Medical Education of the V.A.Almazov National Medical Research Centre, Russia
PubMed articlesGoogle scholar articles

Elena K Kudryashova
Pediatric Endocrinology Laboratory, Institute of Pediatric Endocrinology of the V.A. Almazov National Medical Research Centre, Russia
PubMed articlesGoogle scholar articles

Ruslan R Batrutdinov
Department of Pediatric Surgery of the I.I.Mechnikov North-West State Medical University, Russia
PubMed articlesGoogle scholar articles

Anna A Kostareva
Institute of Molecular Biology and Genetics of the V.A.Almazov National Medical Research Centre, Russia
PubMed articlesGoogle scholar articles

Igor A Kelmanson
Department of Childrenís Diseases, Institute for Medical Education of the V.A.Almazov National Medical Research Centre, Russia
PubMed articlesGoogle scholar articles

Elena N Grineva
Institute of Endocrinology of the V.A. Almazov National Medical Research Centre, Russia
PubMed articlesGoogle scholar articles


Correspondence to:
. Irina L Nikitina, Department of Children's Diseases, Institute for Medical Education of the V.A.Almazov National Medical Research Centre, Russia; nikitina0901@gmail.com

Publication history
Published online 01 Jan 1970
Received 17 Nov 2018
Revised 08 Mar 2019
Accepted 20 Mar 2019
Published in print 29 May 2019

How to cite this article?

Export to EndNote Export to refMan

Pubmed Style

Nikitina IL, Kudryashova EK, Batrutdinov RR, Kostareva AA, Kelmanson IA, Grineva EN. Next-generation DNA sequencing in an appropriate sex assignment: Case report of two phenotypically similar patients with 46, XY disorder of sex development.. EJMCR. 2019; 3(2): 68-73. doi:10.24911/ejmcr/173-1542301068


Web Style

Nikitina IL, Kudryashova EK, Batrutdinov RR, Kostareva AA, Kelmanson IA, Grineva EN. Next-generation DNA sequencing in an appropriate sex assignment: Case report of two phenotypically similar patients with 46, XY disorder of sex development.. https://www.ejmcr.com/?mno=17382 [Access: December 09, 2019]. doi:10.24911/ejmcr/173-1542301068


AMA (American Medical Association) Style

Nikitina IL, Kudryashova EK, Batrutdinov RR, Kostareva AA, Kelmanson IA, Grineva EN. Next-generation DNA sequencing in an appropriate sex assignment: Case report of two phenotypically similar patients with 46, XY disorder of sex development.. EJMCR. 2019; 3(2): 68-73. doi:10.24911/ejmcr/173-1542301068


Vancouver/ICMJE Style

Nikitina IL, Kudryashova EK, Batrutdinov RR, Kostareva AA, Kelmanson IA, Grineva EN. Next-generation DNA sequencing in an appropriate sex assignment: Case report of two phenotypically similar patients with 46, XY disorder of sex development.. EJMCR. (2019), [cited December 09, 2019]; 3(2): 68-73. doi:10.24911/ejmcr/173-1542301068


Harvard Style

Nikitina, I. L., Kudryashova, . E. K., Batrutdinov, . R. R., Kostareva, . A. A., Kelmanson, . I. A. & Grineva, . E. N. (2019) Next-generation DNA sequencing in an appropriate sex assignment: Case report of two phenotypically similar patients with 46, XY disorder of sex development.. EJMCR, 3 (2), 68-73. doi:10.24911/ejmcr/173-1542301068


Turabian Style

Nikitina, Irina L., Elena K. Kudryashova, Ruslan R. Batrutdinov, Anna A. Kostareva, Igor A. Kelmanson, and Elena N. Grineva. 2019. Next-generation DNA sequencing in an appropriate sex assignment: Case report of two phenotypically similar patients with 46, XY disorder of sex development.. European Journal of Medical Case Reports, 3 (2), 68-73. doi:10.24911/ejmcr/173-1542301068


Chicago Style

Nikitina, Irina L., Elena K. Kudryashova, Ruslan R. Batrutdinov, Anna A. Kostareva, Igor A. Kelmanson, and Elena N. Grineva. "Next-generation DNA sequencing in an appropriate sex assignment: Case report of two phenotypically similar patients with 46, XY disorder of sex development.." European Journal of Medical Case Reports 3 (2019), 68-73. doi:10.24911/ejmcr/173-1542301068


MLA (The Modern Language Association) Style

Nikitina, Irina L., Elena K. Kudryashova, Ruslan R. Batrutdinov, Anna A. Kostareva, Igor A. Kelmanson, and Elena N. Grineva. "Next-generation DNA sequencing in an appropriate sex assignment: Case report of two phenotypically similar patients with 46, XY disorder of sex development.." European Journal of Medical Case Reports 3.2 (2019), 68-73. Print. doi:10.24911/ejmcr/173-1542301068


APA (American Psychological Association) Style

Nikitina, I. L., Kudryashova, . E. K., Batrutdinov, . R. R., Kostareva, . A. A., Kelmanson, . I. A. & Grineva, . E. N. (2019) Next-generation DNA sequencing in an appropriate sex assignment: Case report of two phenotypically similar patients with 46, XY disorder of sex development.. European Journal of Medical Case Reports, 3 (2), 68-73. doi:10.24911/ejmcr/173-1542301068


Share this article

Click the icon of the social media platform on which you would like to share this article.

Article Statistics

Viewed: 2074
Downloaded: 87
Cited: 0

Request permissions

If you wish to reuse any part or all of this article please contact the copyright holder, contact@ejmcr.com.

Copyright © 2018 Discover Publishing Group. All Rights Reserved.