The phenotype and genotype characteristics of 41 patients with steroid 5α-reductase type 2 deficiency / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 226-232, 2019.
Article
Dans Chinois
| WPRIM
| ID: wpr-745713
ABSTRACT
Objective To investigate the cliuical phenotype and the genotype of forty-one patients with steroid 5α-reductase type 2 deficiency.Methods The clinical data were collected including physical examination,medical history,laboratory test,as well as ultrasonic examination.Genomic DNA was extracted from peripheral blood leukocytes.Sanger sequencing and targeted gene captured next-generation sequencing were applied to detect the SRDSA2 gene mutation.Results All the patients are Han nationality and their ages ranged from 4 months to 11 years old.The karyotypes of 41 patients were 46,XY and all SRY genes were detected as positive.There were 26 (63%) patients manifested isolated micropenis,and the rest of fifteen patients were hypospadias associated with microphallus accounting for 37%.There were 39 patients who carried biallelic mutation.Two cases just identified one allele mutation.Sixteen gene mutation types were confirmed.Among them c.725A > G (p.Tyr242Cys),c.694C > G (p.His232Asp),and c.548-9T>G are the novel gene types.The allele frequency of c.680G>A (p.Arg227Gln) is 60% (48/80).Conclusion The primary manifestations of patients with steroid 5α-reductase type 2 deficiency were micropenis or hypospadias accompanied with micropenis.c.680G>A (p.Arg227Gln) is the predominantly mutation type of Chinese patient with steroid 5α-reductase type 2 deficiency.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Étude pronostique
langue:
Chinois
Texte intégral:
Chinese Journal of Endocrinology and Metabolism
Année:
2019
Type:
Article
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