Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations
https://doi.org/10.14341/probl12445
Abstract
Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in patients with severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may also be found in patients with 46,XY partial gonadal dysgenesis and underandrogenization but normal adrenal function. We have analyzed the gene encoding SF1 (NR5A1) in a cohort of 310 Russian patients with 46,XY disorders of sex development (DSD). Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 15 were not previously described. We have not found any phenotype-genotype correlations and any clinical and laboratory markers that would allow to suspect this type of before conducting molecular genetic analysis.
About the Authors
Natalia Yu. Kalinchenko
Endocrinology Research Center
Russian Federation
Russian Federation
MD, PhD
Anna A. Kolodkina
Endocrinology Research Center
Russian Federation
Russian Federation
MD, PhD
Nadezda Y. Raygorodskaya
V.I. Razumovskiy Saratov State Medical University
Russian Federation
Russian Federation
MD, PhD
Anatoly N. Tiulpakov
Endocrinology Research Centre
Russian Federation
Russian Federation
MD, PhD
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For citations:
Kalinchenko N.Yu., Kolodkina A.A., Raygorodskaya N.Y., Tiulpakov A.N. Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations. Problems of Endocrinology. 2020;66(3):62-69. https://doi.org/10.14341/probl12445
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