Clinical and genetic analysis for a patient with 45, X/46, X, Yqh- and mixed gonadal dysgenesis / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the clinical and genetic characteristics of a patient with mixed gonadal dysgenesis.</p><p><b>METHODS</b>Clinical data was collected. The patient was subjected for serum hormone testing and G-banding chromosomal analysis. Sex-determining region of Y-chromosome (SRY) gene and azoospermia factor (AZF) a, b, c regions were analyzed with multiple polymerase chain reaction (PCR) and whole gene sequencing.</p><p><b>RESULTS</b>All serum hormone testing were normal. The karyotype of the patient was 45,X/46,X,Yqh-. PCR has proven the presence of SRY, ZFY and AZFa, and deletion of AZFb and AZFc regions. No mutation was detected in the sequence of the SRY gene. Abdominal computerized tomography has detected a huge mass in the pelvic cavity, which was positive for PLAP and CD117 on immunohistochemistry stain.</p><p><b>CONCLUSION</b>Based on clinical data and result of genetic testing, the patient was diagnosed with mixed gonadal dysgenesis. Pathological and immunohistochemistry analysis of the transformed gland has confirmed the diagnosis of seminoma. For patient with a karyotype of 45,X/46,X,Yqh-, the risk of seminoma may be related with the presence of SRY gene.</p>