ESPE Abstracts

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...