hrp0086p2-p434 | Gonads & DSD P2 | ESPE2016
Diagnosis, Treatment and Gene Mutation Analysis of the Case with Steroid 5α-Reductase Type 2 Deficiency
Background: To explore the reason of children on the 46,XY DSD.Objective and hypotheses: To analyze the clinical characteristics, diagnosis and management of a case with steroid 5α-reductase type 2 deficiency (SRD5A2) and perform related gene mutation analysis with a view to raising awareness of this disease.Method: A 2 year old 5 months child came with abnomal vulval shape. Karyotype was analyzed by chromosome cultivation. Gn...
ESPE Abstracts
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