Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2

S Arya, A Tiwari, AR Lila, V Sarathi… - European Journal of …, 2020 - academic.oup.com
… to nearly complete male genitalia with minimal under-virilization (isolated microphallus) (1). …
-phenotype correlation among SRD5A2 deficiency patients (7). This may partly be due to …

[HTML][HTML] Virilization at puberty in adolescent girls may reveal a 46, XY disorder of sexual development

A Bergougnoux, L Gaspari, M Soleirol… - Endocrine …, 2023 - ec.bioscientifica.com
SRD5A2 gene deletion in patient #3. … 1G>C) to disrupt canonical splicing sites, leading to
aberrant splicing … Therefore, it could be hypothesized that some of these factors may partly

[HTML][HTML] Genotype–Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency

T Gui, F Yao, X Yang, X Wang, M Nie… - International Journal of …, 2022 - ncbi.nlm.nih.gov
… of T to DHT in some patients were retained, at least partially. … patient 2 did not present any
virilization. This was because … , and deletion and disruptive mutations were rare, from different …

Steroid 5α-reductase 2 deficiency

DW Russell, JD Wilson - Genetic Steroid Disorders, 2023 - Elsevier
mutations in the steroid 5α-reductase 2 gene (SRD5A2) … male mice with targeted disruption
of the genes for both steroid … to the profound impairment of virilization in human males with 5α…

Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population

MM Alswailem, OS Alzahrani, L Alghofaili, E Qasem… - Endocrine, 2019 - Springer
… Thirteen (54%) of them had severe under virilization and were assigned female sex at birth.
The … Sequence chromatographs showing examples of SRD5A2 mutations found in subjects …

5α-reductase-2 deficiency: clinical findings, endocrine pitfalls, and genetic features in a large Italian cohort

S Bertelloni, F Baldinotti, G Russo, P Ghirri, E Dati… - Sexual …, 2016 - karger.com
… may permit to select individuals for SRD5A2 gene analysis. A ge … were performed, the
predicted disruption of the 5α-reductase … female phenotype to partially virilized genitalia. A similar …

Next-generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46, XY DSD

F Buonocore, O Clifford-Mobley… - Journal of the …, 2019 - academic.oup.com
… 5α-reductase deficiency type 2 (SRD5A2)], or in androgen action … , whereas the other had
partially virilized genitalia and no … in our cohort had heterozygous disruptive variants in DHX37. …

Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development

V Kulkarni, SK Chellasamy, S Dhangar… - Molecular Human …, 2023 - academic.oup.com
… have identified two novel variants in the SRD5A2 gene. The … Instead, there is an external
bond which may disrupt the … variable degrees of under-virilization ranging from pseudo-vaginal …

Phenotype and genetic characteristics in 20 Chinese patients with 46, XY disorders of sex development

GY Zheng, GM Chu, PP Li, R He - Journal of Endocrinological …, 2023 - Springer
… AR, NR5A1, and SRD5A2 genes were the most common … and virilization of the external
genitalia [11, 13]. NR5A1 … the enzyme and NADPH by disrupting the enzyme domain, but also …

Molecular genetics of non 21α-hydroxylase congenital adrenal hyperplasia and 5α-reductase deficiency in Saudi Arabia

MM Al Swailem - 2016 - search.proquest.com
mutation and one novel nonsense mutation. 6. SRD5A2: Five previously reported mutations
in 16 patients … One nonsense mutation, one splice-site mutation and 3 missense mutations. …