EJMCR |

Case Report

Volume: 3 | Issue: 2 | Published: Apr 25, 2019 | Pages: 68 - 73 | DOI: 10.24911/ejmcr/173-1542301068

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

Article Info

Authors

Irina L Nikitina

Department of Children&apos;s Diseases, Institute for Medical Education of the V.A.Almazov National Medical Research Centre, Russia

Elena K Kudryashova

Pediatric Endocrinology Laboratory, Institute of Pediatric Endocrinology of the V.A. Almazov National Medical Research Centre, Russia

Ruslan R Batrutdinov

Department of Pediatric Surgery of the I.I.Mechnikov North-West State Medical University, Russia

Anna A Kostareva

Institute of Molecular Biology and Genetics of the V.A.Almazov National Medical Research Centre, Russia

Igor A. Kelmanson

Department of Childrens Diseases, Institute for Medical Education of the V.A.Almazov National Medical Research Centre, Russia

Elena N. Grineva

Institute of Endocrinology of the V.A. Almazov National Medical Research Centre, Russia

Publication History

Received: November 17, 2018

Revised: March 08, 2019

Accepted: March 20, 2019

Published: April 25, 2019

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.А1024G: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, green

Pubmed Style

Irina L Nikitina, Elena K Kudryashova, Ruslan R Batrutdinov, Anna A Kostareva, Igor A. Kelmanson, 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.. EJMCR. 2019; 25 (April 2019): 68-73. doi:10.24911/ejmcr/173-1542301068

Web Style

Irina L Nikitina, Elena K Kudryashova, Ruslan R Batrutdinov, Anna A Kostareva, Igor A. Kelmanson, 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.. https://ejmcr.com/articles/1488 [Access: December 25, 2024]. doi:10.24911/ejmcr/173-1542301068

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Irina L Nikitina, Elena K Kudryashova, Ruslan R Batrutdinov, Anna A Kostareva, Igor A. Kelmanson, 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.. EJMCR. (2019), [cited December 25, 2024]; 25 (April 2019): 68-73. doi:10.24911/ejmcr/173-1542301068

Harvard Style

Irina L Nikitina, Elena K Kudryashova, Ruslan R Batrutdinov, Anna A Kostareva, Igor A. Kelmanson, 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.. EJMCR, 25 (April 2019): 68-73. doi:10.24911/ejmcr/173-1542301068

Chicago Style

Irina L Nikitina, Elena K Kudryashova, Ruslan R Batrutdinov, Anna A Kostareva, Igor A. Kelmanson, 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.." 25 (2019), 68-73. doi:10.24911/ejmcr/173-1542301068

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

Irina L Nikitina, Elena K Kudryashova, Ruslan R Batrutdinov, Anna A Kostareva, Igor A. Kelmanson, 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.. , 25 (April 2019), 68-73. doi:10.24911/ejmcr/173-1542301068