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 child raised as female came to our hospital because ultrasound examination revealed the absence of ovaries and uterus 2 years ago. She also complained of muscle cramps of the feet and hands. The karyotype result was 46, XY. SRY gene was positive. Bilateral gonads located in the abdominal cavity detected by ultrasound. Vaginoscopy revealed a blind-ending vagina. Laparoscopy detected no uterine. Pathology of bilateral gonads revealed dysgenetic testes which was consistent with PGD. The gonads confirmed by negative reaction with OCT3/4. Electrophysiology of peripheral nerves showed that the motor and sensory nerve conduction velocities were slightly slowed down. The genetic examination revealed a homozygous mutation (p. Cys343Arg) in exon 3 of DHH gene in the child. The same heterozygous mutations were found in the patient’s parents.

Conclusions: This is the first reported case of 46, XY partial gonadal dysgenesis accompanied by neuropathy caused by a DHH homozygous missense mutation [c.1027T>C (p. Cys343Arg)] from China. And literatures were reviewed.