Case - Severely oligozoospermic patient with both mosaic Klinefelter syndrome and a complete azoospermia factor c (AZFc) Y chromosome microdeletion

被引：2

作者：

Golin, Andrew P. ^{[1
]}

Neil, Sarah ^{[2
]}

Flannigan, Ryan ^{[3
,4
]}

机构：

[1] Univ British Columbia, Fac Med, Vancouver, BC, Canada

[2] Olive Fertil Ctr, Vancouver, BC, Canada

[3] Univ British Columbia, Dept Urol Sci, Vancouver, BC, Canada

[4] Weill Cornell Med, Dept Urol, New York, NY USA

来源：

CUAJ-CANADIAN UROLOGICAL ASSOCIATION JOURNAL | 2020年 / 14卷 / 05期

关键词：

INFERTILE MEN; DELETIONS;

D O I：

10.5489/cuaj.6255

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：E224 / E226

页数：3

共 15 条

[1] Biopsied testis cells of four 47,XXY patients:: fluorescence in-situ hybridization and ICSI results [J].

Bergère, M ;

Wainer, R ;

Nataf, V ;

Bailly, M ;

Gombault, M ;

Ville, Y ;

Selva, J .

HUMAN REPRODUCTION, 2002, 17 (01) :32-37

[2] Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome [J].

Choe, Jin Ho ;

Kim, Jong Woo ;

Lee, Joong Shik ;

Seo, Ju Tae .

ASIAN JOURNAL OF ANDROLOGY, 2007, 9 (06) :815-820

[3] Genetics of the human Y chromosome and its association with male infertility [J].

Colaco, Stacy ;

Modi, Deepak .

REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY, 2018, 16

[4] Molecular and clinical characterization of Y chromosome microdeletions in infertile men: A 10-year experience in Italy [J].

Ferlin, Alberto ;

Arredi, Barbara ;

Speltra, Elena ;

Cazzadore, Carla ;

Selice, Riccardo ;

Garolla, Andrea ;

Lenzi, Andrea ;

Foresta, Carlo .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (03) :762-770

[5] Submicroscopic deletions in the Y chromosome of infertile men [J].

Girardi, SK ;

Mielnik, A ;

Schlegel, PN .

HUMAN REPRODUCTION, 1997, 12 (08) :1635-1641

[6] Klinefelter Syndrome-A Clinical Update [J].

Groth, Kristian A. ;

Skakkebaek, Anne ;

Host, Christian ;

Gravholt, Claus Hojbjerg ;

Bojesen, Anders .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 98 (01) :20-30

[7] Genetic association between AZF region polymorphism and Klinefelter syndrome [J].

Hadjkacem-Loukil, Lobna ;

Ghorbel, Myriam ;

Bahloul, Ali ;

Ayadi, Hammadi ;

Ammar-Keskes, Leila .

REPRODUCTIVE BIOMEDICINE ONLINE, 2009, 19 (04) :547-551

[8] Syndrome characterized by gynecomastisa, aspermatogenesis without a-leydigism, and increased excietion of follicle-stimulating hormone [J].

Klinefelter, HF ;

Reifenstein, EC ;

Albright, F .

JOURNAL OF CLINICAL ENDOCRINOLOGY, 1942, 2 (11) :615-627

[9] EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013 [J].

Krausz, C. ;

Hoefsloot, L. ;

Simoni, M. ;

Tuettelmann, F. .

ANDROLOGY, 2014, 2 (01) :5-19

[10] Klinefelter's syndrome [J].

Lanfranco, F ;

Kamischke, A ;

Zitzmann, M ;

Nieschlag, E .

LANCET, 2004, 364 (9430) :273-283

← 1 2 →