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Spermatogenic failure 14(SPGF14)

MedGen UID:
862891
•Concept ID:
C4014454
•
Disease or Syndrome
Synonym: SPGF14
 
Gene (location): ZMYND15 (17p13.2)
 
Monarch Initiative: MONDO:0014366
OMIM®: 615842

Definition

Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene. [from MONDO]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
•Concept ID:
C0004509
•
Disease or Syndrome
Absence of any measurable level of sperm in his semen.
See: Feature record | Search on this feature
Male infertility
MedGen UID:
5796
•Concept ID:
C0021364
•
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
See: Feature record | Search on this feature
Abnormal circulating luteinizing hormone concentration
MedGen UID:
663319
•Concept ID:
C0580438
•
Finding
An anomaly of the circulating level of luteinizing hormone (LH).
See: Feature record | Search on this feature
Abnormal circulating testosterone concentration
MedGen UID:
663334
•Concept ID:
C0580454
•
Finding
An anomalous concentration of testosterone in the blood.
See: Feature record | Search on this feature
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
•Concept ID:
C4021550
•
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
See: Feature record | Search on this feature
Abnormal prolactin level
MedGen UID:
868057
•Concept ID:
C4022448
•
Finding
See: Feature record | Search on this feature
Round spermatid arrest
MedGen UID:
1386128
•Concept ID:
C4476926
•
Finding
A type of maturation arrest in which spermatids are detected without spermatozoa.
See: Feature record | Search on this feature
Azoospermia
Male infertility
Abnormal circulating luteinizing hormone concentration
Abnormal circulating testosterone concentration
Elevated circulating follicle stimulating hormone level
Abnormal prolactin level
Round spermatid arrest

Professional guidelines

PubMed

In-vitro fertilization treatment for severe male factor: the fertilization potential of immotile spermatozoa obtained by testicular extraction.
Shulman A, Feldman B, Madgar I, Levron J, Mashiach S, Dor J
Hum Reprod 1999 Mar;14(3):749-52. doi: 10.1093/humrep/14.3.749. PMID: 10221708
Population study of causes, treatment, and outcome of infertility.
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248Free PMC Article

Recent clinical studies

Etiology

High serum FSH is not a risk factor for low bone mineral density in infertile men.
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men.
Eloualid A, Rouba H, Rhaissi H, Barakat A, Louanjli N, Bashamboo A, McElreavey K
Fertil Steril 2014 Apr;101(4):1086-90. Epub 2014 Jan 30 doi: 10.1016/j.fertnstert.2013.12.040. PMID: 24484996
Y-chromosome AZFc structural architecture and relationship to male fertility.
Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K
Fertil Steril 2009 Dec;92(6):1924-33. Epub 2008 Nov 6 doi: 10.1016/j.fertnstert.2008.08.135. PMID: 18990391
Expression levels of the inhibitor of apoptosis survivin in testes of patients with normal spermatogenesis and spermatogenic failure.
Weikert S, Schrader M, Müller M, Schulze W, Krause H, Miller K
Fertil Steril 2005 Apr;83 Suppl 1:1100-5. doi: 10.1016/j.fertnstert.2004.12.010. PMID: 15831281
A nation-based population screening for azoospermia factor deletions in Greek-Cypriot patients with severe spermatogenic failure and normal fertile controls, using a specific study and experimental design.
Ioulianos A, Sismani C, Fourouclas N, Patroclou T, Sergiou C, Patsalis PC
Int J Androl 2002 Jun;25(3):153-8. doi: 10.1046/j.1365-2605.2002.00340.x. PMID: 12031043

Diagnosis

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
Cannarella R, Caruso M, Crafa A, Timpanaro TA, Lo Bianco M, Presti S, Condorelli RA, La Vignera S, Calogero AE
Front Endocrinol (Lausanne) 2021;12:619895. Epub 2021 Apr 2 doi: 10.3389/fendo.2021.619895. PMID: 33868165Free PMC Article
Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes.
Chen S, Wang G, Zheng X, Ge S, Dai Y, Ping P, Chen X, Liu G, Zhang J, Yang Y, Zhang X, Zhong A, Zhu Y, Chu Q, Huang Y, Zhang Y, Shen C, Yuan Y, Yuan Q, Pei X, Cheng CY, Sun F
Hum Mol Genet 2020 Aug 11;29(14):2451-2459. doi: 10.1093/hmg/ddaa101. PMID: 32469048
Exosomal microRNAs in seminal plasma are markers of the origin of azoospermia and can predict the presence of sperm in testicular tissue.
Barceló M, Mata A, Bassas L, Larriba S
Hum Reprod 2018 Jun 1;33(6):1087-1098. doi: 10.1093/humrep/dey072. PMID: 29635626Free PMC Article
Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia.
Dong Y, Pan Y, Wang R, Zhang Z, Xi Q, Liu RZ
Genet Mol Res 2015 Dec 7;14(4):16041-9. doi: 10.4238/2015.December.7.17. PMID: 26662397
Genetic causes of spermatogenic failure.
Massart A, Lissens W, Tournaye H, Stouffs K
Asian J Androl 2012 Jan;14(1):40-8. Epub 2011 Dec 5 doi: 10.1038/aja.2011.67. PMID: 22138898Free PMC Article

Therapy

Microdissection testicular sperm extraction (micro-TESE) in men with infertility due to nonobstructive azoospermia: summary of current literature.
Achermann APP, Pereira TA, Esteves SC
Int Urol Nephrol 2021 Nov;53(11):2193-2210. Epub 2021 Aug 19 doi: 10.1007/s11255-021-02979-4. PMID: 34410586
Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
Cannarella R, Caruso M, Crafa A, Timpanaro TA, Lo Bianco M, Presti S, Condorelli RA, La Vignera S, Calogero AE
Front Endocrinol (Lausanne) 2021;12:619895. Epub 2021 Apr 2 doi: 10.3389/fendo.2021.619895. PMID: 33868165Free PMC Article
Use of human chorionic gonadotropin in a male Pacific walrus (Odobenus rosmarus divergens) to induce rut and achieve a pregnancy in a nulliparous female.
Muraco HS, Coombs LD, Procter DG, Turek PJ, Muraco MJ
J Androl 2012 Sep-Oct;33(5):789-97. Epub 2011 Dec 29 doi: 10.2164/jandrol.111.015032. PMID: 22207706
Medical therapy for spermatogenic failure.
Ramasamy R, Stahl PJ, Schlegel PN
Asian J Androl 2012 Jan;14(1):57-60. Epub 2011 Dec 19 doi: 10.1038/aja.2011.63. PMID: 22179517Free PMC Article
The role of asynapsis in human spermatocyte failure.
Sciurano RB, Rahn MI, Rey-Valzacchi G, Coco R, Solari AJ
Int J Androl 2012 Aug;35(4):541-9. Epub 2011 Oct 7 doi: 10.1111/j.1365-2605.2011.01221.x. PMID: 21977946

Prognosis

Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.
Cannarella R, Caruso M, Crafa A, Timpanaro TA, Lo Bianco M, Presti S, Condorelli RA, La Vignera S, Calogero AE
Front Endocrinol (Lausanne) 2021;12:619895. Epub 2021 Apr 2 doi: 10.3389/fendo.2021.619895. PMID: 33868165Free PMC Article
High serum FSH is not a risk factor for low bone mineral density in infertile men.
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Exosomal microRNAs in seminal plasma are markers of the origin of azoospermia and can predict the presence of sperm in testicular tissue.
Barceló M, Mata A, Bassas L, Larriba S
Hum Reprod 2018 Jun 1;33(6):1087-1098. doi: 10.1093/humrep/dey072. PMID: 29635626Free PMC Article
Y-chromosome AZFc structural architecture and relationship to male fertility.
Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K
Fertil Steril 2009 Dec;92(6):1924-33. Epub 2008 Nov 6 doi: 10.1016/j.fertnstert.2008.08.135. PMID: 18990391
Population study of causes, treatment, and outcome of infertility.
Hull MG, Glazener CM, Kelly NJ, Conway DI, Foster PA, Hinton RA, Coulson C, Lambert PA, Watt EM, Desai KM
Br Med J (Clin Res Ed) 1985 Dec 14;291(6510):1693-7. doi: 10.1136/bmj.291.6510.1693. PMID: 3935248Free PMC Article

Clinical prediction guides

High serum FSH is not a risk factor for low bone mineral density in infertile men.
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Factor V Leiden is associated with increased sperm count.
van Mens TE, Joensen UN, Bochdanovits Z, Takizawa A, Peter J, Jørgensen N, Szecsi PB, Meijers JCM, Weiler H, Rajpert-De Meyts E, Repping S, Middeldorp S
Hum Reprod 2017 Nov 1;32(11):2332-2339. doi: 10.1093/humrep/dex287. PMID: 28927238
Genetic causes of spermatogenic failure.
Massart A, Lissens W, Tournaye H, Stouffs K
Asian J Androl 2012 Jan;14(1):40-8. Epub 2011 Dec 5 doi: 10.1038/aja.2011.67. PMID: 22138898Free PMC Article
P450-aromatase activity and expression in human testicular tissues with severe spermatogenic failure.
Lardone MC, Castillo P, Valdevenito R, Ebensperger M, Ronco AM, Pommer R, Piottante A, Castro A
Int J Androl 2010 Aug 1;33(4):650-60. Epub 2009 Nov 3 doi: 10.1111/j.1365-2605.2009.01002.x. PMID: 19906189
Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure.
Oliver-Bonet M, Benet J, Sun F, Navarro J, Abad C, Liehr T, Starke H, Greene C, Ko E, Martin RH
Hum Reprod 2005 Mar;20(3):683-8. Epub 2005 Feb 2 doi: 10.1093/humrep/deh654. PMID: 15689348

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      Clinical tests in GTR
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