… 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 …

… 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 …

… 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 …

… 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…

… 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 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. …

… 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 …

… 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 …

… Since mutations within this gene can disrupt both the … loss-of-function mutations of the SRD5A2
gene lead to 5α-reductase type … During puberty, patients exhibit virilization without breast …

… with loss of germ cells and disruption of seminiferous tubules. They … Most patients with
SRD5A2 deficiency are homozygous or … At puberty, these patients are partially virilized and testes …