hrp0089p3-p360 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

46,XY Gonadal Dysgenesis Accompanied by Neuropathy Caused by a DHH Mutation

Su Zhe , Pan Lili , Wang Li , Chen Weiyan , Song Jianming , Li Shoulin

Objectives: To summarize the clinical manifestations of a patient of 46,XY partial gonadal dysgenesis (PGD) accompanied by neuropathy. This is the first reported case of DHH mutation from China.Methods: We retrospectively reviewed the case and summarized the clinical history, physical examinations, laboratory and genetics tests, electromyography, ultrasound, surgical exploration and histopathology results.Results: The 14.3-year-old...