Genetic analysis of a rare case with Kallman syndrome and steroid sulfatase deficiency / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the pathogenesis of a patient featuring azoospermia and steroid sulfatase deficiency.</p><p><b>METHODS</b>Polymerase chain reaction (PCR), G-banded karyotyping and Illumina Human CytoSNP-12 Beadchip analysis were conducted.</p><p><b>RESULTS</b>STS sites PCR showed that there was no deletion in the AZF zone. G-banding analysis indicated an unknown structural change in chromosome X, which was verified by single nucleotide polymorphism array (SNP array) as a 5.4 Mb deletion in Xp22.31-p22.33.</p><p><b>CONCLUSION</b>The Xp22.31-p22.33 deletion probably underlies the Kallman syndrome and steroid sulfatase defect in the patient.</p>