[Genetic analysis of a rare case with Kallman syndrome and steroid sulfatase deficiency].
OBJECTIVE
To explore the pathogenesis of a patient featuring azoospermia and steroid sulfatase deficiency.


METHODS
Polymerase chain reaction (PCR), G-banded karyotyping and Illumina Human CytoSNP-12 Beadchip analysis were conducted.


RESULTS
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.


CONCLUSIONS
The Xp22.31-p22.33 deletion probably underlies the Kallman syndrome and steroid sulfatase defect in the patient.
Reproduction Medicine Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
Xingui
X
Liu
Nan
N
Bai
Xiangdong
X
Kong
D000328:Adult; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics*; D017436:Kallmann Syndrome / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide