Details of Disease

General Information of Disease (ID: DIS94181)

Disease Name	Azoospermia
Disease Class	GB04: Male infertility
Definition	A male infertility disease characterized by the absence of any measurable level of sperm in semen.
Disease Hierarchy	DISY3YZZ: Male infertility DIS94181: Azoospermia
ICD Code	ICD-11 ICD-11: GB04.0
Disease Identifiers	MONDO ID MONDO_0100459 MESH ID D053713 UMLS CUI C0004509 MedGen ID 2150 HPO ID HP:0000027 SNOMED CT ID 425558002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
13-cis-retinoic acid	DMTZ1A5	Phase 3	NA	[1]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 22 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SOX5	TTXHSZK	Limited	Genetic Variation	[2]
ALB	TTFNGC9	moderate	Therapeutic	[3]
AR	TTKPW01	moderate	Genetic Variation	[4]
ADAMTS5	TTXSU2Y	Strong	Biomarker	[5]
BRCA2	TTUARD6	Strong	Genetic Variation	[6]
BRD2	TTDP48B	Strong	Altered Expression	[7]
CACNA2D1	TTFK1JQ	Strong	Biomarker	[8]
CFTR	TTRLZHP	Strong	Genetic Variation	[9]
DMPK	TTZQTY2	Strong	Genetic Variation	[10]
DNMT3L	TT3FDAV	Strong	Genetic Variation	[11]
KISS1R	TT3KBZY	Strong	Genetic Variation	[12]
KIT	TTX41N9	Strong	Genetic Variation	[13]
LIPE	TTLUQ8E	Strong	Biomarker	[14]
NR0B1	TTTK36V	Strong	Genetic Variation	[15]
OAT	TTTSCQ2	Strong	Genetic Variation	[16]
PARP2	TTQ4V96	Strong	Biomarker	[17]
PGD	TTZ3IFB	Strong	Biomarker	[18]
PLK4	TTGPNZQ	Strong	Genetic Variation	[19]
SLC9A3	TTFZVPO	Strong	Biomarker	[20]
SRD5A2	TTT02K8	Strong	Genetic Variation	[21]
THRB	TTGER3L	Strong	Biomarker	[22]
USP2	TTUEQ1W	Strong	Genetic Variation	[23]
------------------------------------------------------------------------------------


⏷ Show the Full List of 22 DTT(s)

This Disease Is Related to 61 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLCH2	OTYERO80	Limited	Genetic Variation	[2]
BSCL2	OT73V6Y4	moderate	Biomarker	[24]
FANCM	OTNJG99Z	moderate	Genetic Variation	[25]
ART3	OT68OFVT	Strong	Altered Expression	[26]
BPY2	OT2WQPNQ	Strong	Biomarker	[27]
CCNA1	OTX4HD45	Strong	Genetic Variation	[28]
CDY1	OTQVDS8D	Strong	Genetic Variation	[29]
DDX25	OTF36NBP	Strong	Biomarker	[22]
DDX3Y	OTKL1FNX	Strong	Genetic Variation	[30]
DNAH1	OTDZ26FJ	Strong	Genetic Variation	[31]
DPP6	OTWW3H0K	Strong	Biomarker	[8]
EIF1AY	OTWVDOJU	Strong	Altered Expression	[32]
ESX1	OTZUPU2C	Strong	Altered Expression	[33]
FKBP6	OTDFQV81	Strong	Genetic Variation	[34]
GTF2A1L	OTDQHVAI	Strong	Genetic Variation	[35]
H2BW1	OT7ZCPKK	Strong	Genetic Variation	[36]
H3-4	OTY6ITYF	Strong	Biomarker	[37]
HORMAD1	OT7DR5T2	Strong	Genetic Variation	[38]
HSF2	OTXNJIJ9	Strong	Genetic Variation	[39]
HSFY2	OTG2O6S4	Strong	Genetic Variation	[40]
HSPA2	OTSDET7B	Strong	Biomarker	[41]
LMTK2	OT93MVIC	Strong	Genetic Variation	[42]
LRWD1	OTHRVJQC	Strong	Genetic Variation	[43]
MAGEB4	OTZEFR8N	Strong	Genetic Variation	[44]
MEI1	OTD34H3B	Strong	Genetic Variation	[45]
MEIOB	OTTX5TF0	Strong	Genetic Variation	[46]
MLH3	OT91PPBI	Strong	Genetic Variation	[47]
MSH5	OTDARQT3	Strong	Genetic Variation	[48]
NLRP14	OT1XAQYM	Strong	Genetic Variation	[49]
NPHS2	OTLCNUII	Strong	Altered Expression	[50]
NR5A1	OTOULYR4	Strong	Genetic Variation	[51]
PANK2	OTFBW889	Strong	Biomarker	[52]
PGK2	OTMD662Q	Strong	Biomarker	[53]
PIWIL4	OTDA9MY0	Strong	Altered Expression	[54]
PRDM9	OTWAHLUR	Strong	Biomarker	[55]
PRM1	OT6HWA11	Strong	Biomarker	[33]
PRM2	OTSAXTSQ	Strong	Biomarker	[53]
PSMC3IP	OT9UB5UO	Strong	Genetic Variation	[56]
PYGO2	OTZHB2OI	Strong	Genetic Variation	[57]
RAD21L1	OTKI9XNB	Strong	Biomarker	[58]
RBM5	OTCBWHHV	Strong	Genetic Variation	[59]
RBMY1A1	OTM2F25H	Strong	Biomarker	[60]
REC8	OT6JAVXE	Strong	Genetic Variation	[61]
SBF1	OTW6I9RV	Strong	Biomarker	[62]
SEPTIN12	OTFUKRXA	Strong	Genetic Variation	[63]
SETX	OTG3JNOQ	Strong	Genetic Variation	[64]
SNRNP70	OTP52YZ3	Strong	Biomarker	[38]
SPATA17	OT6SK923	Strong	Genetic Variation	[65]
SPATA25	OTJMFF0A	Strong	Altered Expression	[66]
SPINK2	OTSFBT0G	Strong	Biomarker	[67]
SPO11	OTP49B2R	Strong	Genetic Variation	[68]
SRY	OT516T6D	Strong	Genetic Variation	[69]
STRA8	OT3DKIYB	Strong	Genetic Variation	[70]
SYCP3	OTKOF54H	Strong	Genetic Variation	[23]
TDRD7	OTK639ET	Strong	Biomarker	[71]
TDRD9	OTS4UBI8	Strong	Altered Expression	[72]
TEX101	OTNO747E	Strong	Biomarker	[73]
TEX11	OTJDBGSS	Strong	Genetic Variation	[74]
TNP1	OTKQH7E5	Strong	Biomarker	[33]
TSPY1	OTPY57X4	Strong	Altered Expression	[75]
TSPYL1	OTVVPELG	Strong	Genetic Variation	[76]
------------------------------------------------------------------------------------


⏷ Show the Full List of 61 DOT(s)

References

1	ClinicalTrials.gov (NCT03323801) RA-4: 13-cis Retinoic Acid for Treatment of Men With Azoospermia. U.S. National Institutes of Health.
2	A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.Nat Genet. 2011 Dec 25;44(2):183-6. doi: 10.1038/ng.1040.
3	Tyrosine phosphorylation of dihydrolipoamide dehydrogenase as a potential cadmium target and its inhibitory role in regulating mouse sperm motility.Toxicology. 2016 May 16;357-358:52-64. doi: 10.1016/j.tox.2016.06.003. Epub 2016 Jun 8.
4	Spermatogenesis disorder is associated with mutations in the ligand-binding domain of an androgen receptor.Andrologia. 2019 Nov;51(10):e13376. doi: 10.1111/and.13376. Epub 2019 Aug 2.
5	ADAMTS1 and ADAMTS5 metalloproteases produced by Sertoli cells: a potential diagnostic marker in azoospermia.Syst Biol Reprod Med. 2019 Feb;65(1):29-38. doi: 10.1080/19396368.2018.1467512. Epub 2018 May 8.
6	The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia.Eur J Obstet Gynecol Reprod Biol. 2006 Jan 1;124(1):61-4. doi: 10.1016/j.ejogrb.2005.09.001. Epub 2005 Oct 27.
7	FSHB -211 G>T Polymorphism as Predictor for TESE Success in Patients With Unexplained Azoospermia.J Clin Endocrinol Metab. 2019 Jun 1;104(6):2315-2324. doi: 10.1210/jc.2018-02249.
8	Mapping breakpoints of a familial chromosome insertion (18,7) (q22.1; q36.2q21.11) to DPP6 and CACNA2D1 genes in an azoospermic male.Gene. 2014 Aug 15;547(1):43-9. doi: 10.1016/j.gene.2014.06.007. Epub 2014 Jun 14.
9	Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.Reprod Biomed Online. 2019 Dec;39(6):963-968. doi: 10.1016/j.rbmo.2019.08.005. Epub 2019 Aug 22.
10	CTG amplification in the DM1PK gene is not associated with idiopathic male subfertility.Hum Reprod. 2004 Sep;19(9):2084-7. doi: 10.1093/humrep/deh382. Epub 2004 Jul 29.
11	Association between single-nucleotide polymorphisms of DNMT3L and infertility with azoospermia in Chinese men.Reprod Biomed Online. 2012 Jan;24(1):66-71. doi: 10.1016/j.rbmo.2011.09.004. Epub 2011 Sep 16.
12	Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China.J Clin Lab Anal. 2020 Apr;34(4):e23139. doi: 10.1002/jcla.23139. Epub 2019 Dec 10.
13	SNPs in KIT and KITLG genes may be associated with oligospermia in Chinese population.Biomarkers. 2013 Dec;18(8):650-4. doi: 10.3109/1354750X.2013.838307. Epub 2013 Oct 1.
14	Hormone-sensitive lipase deficiency alters gene expression and cholesterol content of mouse testis.Reproduction. 2017 Feb;153(2):175-185. doi: 10.1530/REP-16-0484. Epub 2016 Nov 10.
15	Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.Pituitary. 2017 Oct;20(5):585-593. doi: 10.1007/s11102-017-0822-x.
16	The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses.Fetal Diagn Ther. 2004 Jul-Aug;19(4):313-8. doi: 10.1159/000077958.
17	Poly(ADP-ribose) polymerase-2: emerging transcriptional roles of a DNA-repair protein.Cell Mol Life Sci. 2012 Dec;69(24):4079-92. doi: 10.1007/s00018-012-1003-8. Epub 2012 May 13.
18	Does PGD for aneuploidy screening change the selection of embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men?.Hum Reprod. 2006 Sep;21(9):2390-5. doi: 10.1093/humrep/del177. Epub 2006 Jun 6.
19	A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome.Andrology. 2016 Jan;4(1):75-81. doi: 10.1111/andr.12113. Epub 2015 Oct 9.
20	Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice.PLoS Genet. 2017 Apr 6;13(4):e1006715. doi: 10.1371/journal.pgen.1006715. eCollection 2017 Apr.
21	Steroid 5alpha-reductase 2 gene melting polymorphisms in male subjects with azoospermia or oligospermia.Am J Obstet Gynecol. 1999 Jun;180(6 Pt 1):1394-8. doi: 10.1016/s0002-9378(99)70024-4.
22	Gonadotropin Regulation Testicular RNA Helicase, Two Decades of Studies on Its Structure Function and Regulation From Its Discovery Opens a Window for Development of a Non-hormonal Oral Male Contraceptive.Front Endocrinol (Lausanne). 2019 Aug 29;10:576. doi: 10.3389/fendo.2019.00576. eCollection 2019.
23	Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia.Mol Hum Reprod. 2005 Sep;11(9):673-5. doi: 10.1093/molehr/gah232. Epub 2005 Oct 14.
24	Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.Hum Mol Genet. 2015 Aug 1;24(15):4238-49. doi: 10.1093/hmg/ddv156. Epub 2015 May 1.
25	Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. Am J Hum Genet. 2018 Aug 2;103(2):200-212. doi: 10.1016/j.ajhg.2018.07.005.
26	Genome-wide expression of azoospermia testes demonstrates a specific profile and implicates ART3 in genetic susceptibility.PLoS Genet. 2008 Feb;4(2):e26. doi: 10.1371/journal.pgen.0040026.
27	VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A.Biochem Biophys Res Commun. 2002 Sep 6;296(5):1104-11. doi: 10.1016/s0006-291x(02)02040-5.
28	Mutations of the cyclin A1 gene are not a common cause of male infertility.Syst Biol Reprod Med. 2009 Aug;55(4):125-8. doi: 10.3109/19396360902839828.
29	Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.J Assist Reprod Genet. 2015 Sep;32(9):1333-41. doi: 10.1007/s10815-015-0520-4. Epub 2015 Jul 7.
30	Progress in understanding the molecular functions of DDX3Y (DBY) in male germ cell development and maintenance.Biosci Trends. 2017 Mar 22;11(1):46-53. doi: 10.5582/bst.2016.01216. Epub 2017 Feb 12.
31	Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study.Medicine (Baltimore). 2018 Dec;97(49):e13493. doi: 10.1097/MD.0000000000013493.
32	Expression profile of AZF genes in testicular biopsies of azoospermic men.Hum Reprod. 2007 Jan;22(1):151-8. doi: 10.1093/humrep/del341. Epub 2006 Aug 26.
33	Could analysis of testis-specific genes, as biomarkers in seminal plasma, predict presence of focal spermatogenesis in non-obstructive azoospermia?.Andrologia. 2020 Mar;52(2):e13483. doi: 10.1111/and.13483. Epub 2019 Dec 3.
34	Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study.Reprod Biol Endocrinol. 2010 Mar 8;8:22. doi: 10.1186/1477-7827-8-22.
35	Association of single nucleotide polymorphisms in the USF1, GTF2A1L and OR2W3 genes with non-obstructive azoospermia in the Chinese population.J Assist Reprod Genet. 2015 Jan;32(1):95-101. doi: 10.1007/s10815-014-0369-y. Epub 2014 Nov 6.
36	Relationship of SNP of H2BFWT gene to male infertility in a Chinese population with idiopathic spermatogenesis impairment.Biomarkers. 2012 Aug;17(5):402-6. doi: 10.3109/1354750X.2012.677066. Epub 2012 Apr 17.
37	Testis-Specific Histone Variant H3t Gene Is Essential for Entry into Spermatogenesis.Cell Rep. 2017 Jan 17;18(3):593-600. doi: 10.1016/j.celrep.2016.12.065.
38	Single-nucleotide polymorphisms in HORMAD1 may be a risk factor for azoospermia caused by meiotic arrest in Japanese patients.Asian J Androl. 2012 Jul;14(4):580-3. doi: 10.1038/aja.2011.180. Epub 2012 Mar 12.
39	A dominant-negative mutation of HSF2 associated with idiopathic azoospermia.Hum Genet. 2013 Feb;132(2):159-65. doi: 10.1007/s00439-012-1234-7. Epub 2012 Oct 14.
40	Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility.Biol Reprod. 2004 Jul;71(1):297-306. doi: 10.1095/biolreprod.103.023580. Epub 2004 Mar 24.
41	Copy number variation associated with meiotic arrest in idiopathic male infertility.Fertil Steril. 2015 Jan;103(1):214-9. doi: 10.1016/j.fertnstert.2014.09.030. Epub 2014 Oct 25.
42	LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest.J Assist Reprod Genet. 2009 Sep-Oct;26(9-10):545-52. doi: 10.1007/s10815-009-9347-1. Epub 2009 Oct 6.
43	Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome.Andrologia. 2014 Apr;46(3):273-6. doi: 10.1111/and.12077. Epub 2013 Feb 28.
44	A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.J Assist Reprod Genet. 2017 May;34(5):683-694. doi: 10.1007/s10815-017-0900-z. Epub 2017 Apr 11.
45	Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.J Hum Genet. 2006;51(6):533-540. doi: 10.1007/s10038-006-0394-5. Epub 2006 May 9.
46	A new MEIOB mutation is a recurrent cause for azoospermia and testicular meiotic arrest.Hum Reprod. 2019 Apr 1;34(4):666-671. doi: 10.1093/humrep/dez016.
47	The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia.Clin Chim Acta. 2010 Jan;411(1-2):49-52. doi: 10.1016/j.cca.2009.09.038. Epub 2009 Oct 3.
48	Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility.BMC Med. 2012 May 17;10:49. doi: 10.1186/1741-7015-10-49.
49	Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure.Hum Reprod. 2006 Dec;21(12):3178-84. doi: 10.1093/humrep/del293. Epub 2006 Aug 24.
50	New perspectives on the renal slit diaphragm protein podocin.Mod Pathol. 2011 Aug;24(8):1101-10. doi: 10.1038/modpathol.2011.58. Epub 2011 Apr 15.
51	Mutational screening of the NR5A1 in azoospermia.Andrologia. 2015 May;47(4):395-401. doi: 10.1111/and.12274. Epub 2014 Apr 20.
52	Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia.Hum Mol Genet. 2005 Jan 1;14(1):49-57. doi: 10.1093/hmg/ddi005. Epub 2004 Nov 3.
53	Carnitine/organic cation transporter 2 (OCTN2) contributes to rat epididymal epithelial cell growth and proliferation.Biomed Pharmacother. 2017 Sep;93:444-450. doi: 10.1016/j.biopha.2017.06.057. Epub 2017 Jun 27.
54	Altered PIWI-LIKE 1 and PIWI-LIKE 2 mRNA expression in ejaculated spermatozoa of men with impaired sperm characteristics.Asian J Androl. 2018 May-Jun;20(3):260-264. doi: 10.4103/aja.aja_58_17.
55	Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest.J Assist Reprod Genet. 2008 Nov-Dec;25(11-12):553-7. doi: 10.1007/s10815-008-9270-x. Epub 2008 Oct 22.
56	Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.J Clin Endocrinol Metab. 2018 Feb 1;103(2):555-563. doi: 10.1210/jc.2017-01966.
57	Associations of single nucleotide polymorphisms in the Pygo2 coding sequence with idiopathic oligospermia and azoospermia.Genet Mol Res. 2015 Aug 7;14(3):9053-61. doi: 10.4238/2015.August.7.14.
58	Single-nucleotide polymorphisms in the human RAD21L gene may be a genetic risk factor for Japanese patients with azoospermia caused by meiotic arrest and Sertoli cell-only syndrome.Hum Fertil (Camb). 2017 Sep;20(3):217-220. doi: 10.1080/14647273.2017.1292004. Epub 2017 Feb 21.
59	RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertility.PLoS Genet. 2013;9(7):e1003628. doi: 10.1371/journal.pgen.1003628. Epub 2013 Jul 25.
60	Deletion of RBM and DAZ in azoospermia: evaluation by PRINS.Am J Med Genet. 2002 Jan 15;107(2):105-8. doi: 10.1002/ajmg.10107.
61	Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes.Andrology. 2020 Mar;8(2):434-441. doi: 10.1111/andr.12704. Epub 2019 Nov 22.
62	Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1. J Clin Invest. 2002 May;109(9):1165-72. doi: 10.1172/JCI12589.
63	Single nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese men.J Assist Reprod Genet. 2012 Jan;29(1):47-51. doi: 10.1007/s10815-011-9679-5. Epub 2011 Nov 25.
64	Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2).Cerebellum. 2019 Jun;18(3):448-456. doi: 10.1007/s12311-019-01012-w.
65	A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest.Asian J Androl. 2009 Sep;11(5):623-8. doi: 10.1038/aja.2009.30. Epub 2009 Jun 1.
66	Developmental expression pattern of a novel gene, TSG23/Tsg23, suggests a role in spermatogenesis.Mol Hum Reprod. 2009 Apr;15(4):223-30. doi: 10.1093/molehr/gap015. Epub 2009 Feb 24.
67	SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia inhomozygotes.EMBO Mol Med. 2017 Aug;9(8):1132-1149. doi: 10.15252/emmm.201607461.
68	Study of single nucleotide polymorphism (rs28368082) in SPO11 gene and its association with male infertility.J Assist Reprod Genet. 2014 Sep;31(9):1205-10. doi: 10.1007/s10815-014-0279-z. Epub 2014 Jul 9.
69	Localization of the SRY Gene on Chromosome 3 in a Patient with Azoospermia and a Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/ 47,XX,i(Y)(q10).Cytogenet Genome Res. 2018;156(3):134-139. doi: 10.1159/000494464. Epub 2018 Nov 23.
70	Genetic variants in meiotic program initiation pathway genes are associated with spermatogenic impairment in a Han Chinese population.PLoS One. 2013;8(1):e53443. doi: 10.1371/journal.pone.0053443. Epub 2013 Jan 8.
71	Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.Genet Med. 2019 May;21(5):1209-1217. doi: 10.1038/gim.2017.130. Epub 2017 Aug 24.
72	Deficient expression of genes involved in the endogenous defense system against transposons in cryptorchid boys with impaired mini-puberty.Sex Dev. 2011;5(6):287-93. doi: 10.1159/000335188. Epub 2012 Jan 5.
73	Preclinical evaluation of a TEX101 protein ELISA test for the differential diagnosis of male infertility.BMC Med. 2017 Mar 23;15(1):60. doi: 10.1186/s12916-017-0817-5.
74	A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review.BMC Med Genet. 2018 Apr 16;19(1):63. doi: 10.1186/s12881-018-0570-4.
75	Molecular analysis of testis biopsy and semen pellet as complementary methods with histopathological analysis of testis in non-obstructive azoospermia.J Assist Reprod Genet. 2014 Jun;31(6):707-15. doi: 10.1007/s10815-014-0220-5. Epub 2014 Apr 12.
76	Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?.Fertil Steril. 2012 Feb;97(2):402-6. doi: 10.1016/j.fertnstert.2011.11.002. Epub 2011 Dec 2.