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Rapid Communication | Open Access

A novel heterozygous SF1/NR5A1 gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency

Department of Reproductive Biology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, México City 14080, Mexico

Peer review under responsibility of Chongqing Medical University.

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Genes & Diseases
Volume 11 Issue 4,
July 2024
Article number: 101160
DOI: 10.1016/j.gendis.2023.101160

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Ramos L. A novel heterozygous SF1/NR5A1 gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency. Genes & Diseases, 2024, 11(4): 101160. https://doi.org/10.1016/j.gendis.2023.101160

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Received: 27 October 2022
Published: 04 November 2023
© 2023 The Authors.

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).