[Genetic analysis of a rare case with Kallman syndrome and steroid sulfatase deficiency]

Xingui Liu; Nan Bai; Xiangdong Kong

doi:10.3760/cma.j.issn.1003-9406.2016.03.016

[Genetic analysis of a rare case with Kallman syndrome and steroid sulfatase deficiency]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):349-52. doi: 10.3760/cma.j.issn.1003-9406.2016.03.016.

[Article in Chinese]

Authors

Xingui Liu¹, Nan Bai, Xiangdong Kong

Affiliation

¹ Reproduction Medicine Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. [email protected].

PMID: 27264819
DOI: 10.3760/cma.j.issn.1003-9406.2016.03.016

Abstract

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.

Conclusion: The Xp22.31-p22.33 deletion probably underlies the Kallman syndrome and steroid sulfatase defect in the patient.

Publication types

English Abstract

MeSH terms

Adult
Humans
Ichthyosis, X-Linked / genetics*
Kallmann Syndrome / genetics*
Karyotyping
Male
Polymerase Chain Reaction
Polymorphism, Single Nucleotide