Pediatrics and neonatology · 2026
Homozygous p.Arg227Gln mutation with isolated micropenis is the major presentation of 5α-reductase type 2 deficiency in Taiwan.
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Chee Siew-Yin, Ting Cynthia Sze-Ya, Chuang Shu-Hua, Shih Yun-Ju, Chao Mei-Chyn, Hsiao Hui-Pin, Chang Pei-Yen, Tsai Li-Ping
Аннотация
BACKGROUND: The diagnosis of 5α-reductase type 2 deficiency (5α-RD2) is suspected on clinical grounds, typically at birth or during puberty, including pre-pubertal males showing undervirilization and females who virilize at puberty. Isolated micropenis is a relatively rare presentation, and there are limited cases featuring this phenotype. To understand the phenotype and genotype of 5α-RD2 in Taiwan, we performed 5α-reductase type 2(SRD5A2) genetic screening in patients with 46,XY disorders of sex development (DSD).
METHODS: We enrolled 127 Taiwanese patients with 46,XY DSD for clinical and molecular investigation of SRD5A2 and androgen receptor genes.
RESULTS: Nine patients in our study carried the SRD5A2 mutation in both alleles. Five patients presented with isolated micropenis, one with severe hypospadias, and three with ambiguous genitalia. Homozygous p.Arg227Gln mutations were detected in six patients (66.7%) five of which had isolated micropenis. One patient who presented with micropenis and severe hypospadias also carried homozygous p.Val89Leu polymorphism. Heterozygous mutations (p.Arg227Gln and p.Arg246Gln) were found in two patients with ambiguous genitalia. A novel homozygous p.Arg94Ser mutation was detected in one patient who presented with ambiguous genitalia.
CONCLUSION: Our study demonstrates different phenotypes and genotypes of 5α-RD2 in Taiwanese patients. Most of the patients presented with isolated micropenis and they were raised as males. The p.Arg227Gln mutation is a hot-spot mutation in Taiwan occurring with an allele frequency of 77.8% (14/18) in all detected mutation loci. The homozygous p.Arg227Gln mutation is assumed to contribute majorly to cases of isolated micropenis in Taiwan.
METHODS: We enrolled 127 Taiwanese patients with 46,XY DSD for clinical and molecular investigation of SRD5A2 and androgen receptor genes.
RESULTS: Nine patients in our study carried the SRD5A2 mutation in both alleles. Five patients presented with isolated micropenis, one with severe hypospadias, and three with ambiguous genitalia. Homozygous p.Arg227Gln mutations were detected in six patients (66.7%) five of which had isolated micropenis. One patient who presented with micropenis and severe hypospadias also carried homozygous p.Val89Leu polymorphism. Heterozygous mutations (p.Arg227Gln and p.Arg246Gln) were found in two patients with ambiguous genitalia. A novel homozygous p.Arg94Ser mutation was detected in one patient who presented with ambiguous genitalia.
CONCLUSION: Our study demonstrates different phenotypes and genotypes of 5α-RD2 in Taiwanese patients. Most of the patients presented with isolated micropenis and they were raised as males. The p.Arg227Gln mutation is a hot-spot mutation in Taiwan occurring with an allele frequency of 77.8% (14/18) in all detected mutation loci. The homozygous p.Arg227Gln mutation is assumed to contribute majorly to cases of isolated micropenis in Taiwan.