46,XY Gonadal Dysgenesis Due to <i>NR0B1</i> Duplication: A Systematic Review

46,XY GD phenotype with NR0B1 duplication does not correlate with duplicated segment size. A delineated spectrum of gonadal dysfunction, gender identity, fertility, and gonadal malignancy risk presented here can help to optimise patient management.

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Publication Details

Journal
Clinical Endocrinology
Published
2026-01-29
DOI
https://doi.org/10.1111/cen.70104
Primary Topic
Sexual Differentiation and Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review

Soundaram Valliyappan, Shruthi Ravindra, Anima Sharma, Saba Samad Memon et al.
Clinical Endocrinology
Sexual Differentiation and Disorders
article

46,XY Gonadal Dysgenesis Due to NR0B1 Duplication: A Systematic Review

Soundaram Valliyappan, Shruthi Ravindra, Anima Sharma, Saba Samad Memon, Aditya Dhananjay Phadte, Chethan Yami Channaiah, Tushar Bandgar, Rohit Barnabas, Anurag Ranjan Lila, Manjiri Karlekar
article en

Abstract

46,XY GD phenotype with NR0B1 duplication does not correlate with duplicated segment size. A delineated spectrum of gonadal dysfunction, gender identity, fertility, and gonadal malignancy risk presented here can help to optimise patient management.

Clinical EndocrinologyVol. 104(4)
Apollo Hospitals (IN), King Edward Memorial Hospital and Seth G.S. Medical College (IN), Apollo Hospitals (IN), Apollo Hospitals (IN), Karnataka Institute of Medical Sciences (IN), Bangalore Medical College and Research Institute (IN)
Openalex Percentile: Top 73%
Sexual Differentiation and Disorders
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