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Male infertility with teratozoospermia due to single gene mutation

MedGen UID:
1643966
•Concept ID:
C4706677
•
Disease or Syndrome
Synonym: male infertility with teratozoospermia due to single gene mutation
SNOMED CT: Male infertility with teratozoospermia due to single gene mutation (764096006)
 
Monarch Initiative: MONDO:0018394
Orphanet: ORPHA399808

Definition

A rare genetic male infertility due to sperm disorder with characteristics of the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece and/or tail. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Male infertility with teratozoospermia due to single gene mutation

Recent clinical studies

Etiology

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Celse T, Cazin C, Mietton F, Martinez G, Martinez D, Thierry-Mieg N, Septier A, Guillemain C, Beurois J, Clergeau A, Mustapha SFB, Kharouf M, Zoghmar A, Chargui A, Papaxanthos A, Dorphin B, Foliguet B, Triki C, Sifer C, Lauton D, Tachdjian G, Schuler G, Lejeune H, Puechberty J, Bessonnat J, Pasquier L, Mery L, Poulain M, Chaabouni M, Sermondade N, Cabry R, Benbouhadja S, Veau S, Frapsauce C, Mitchell V, Achard V, Satre V, Hennebicq S, Zouari R, Arnoult C, Kherraf ZE, Coutton C, Ray PF
Hum Genet 2021 Jan;140(1):43-57. Epub 2020 Oct 27 doi: 10.1007/s00439-020-02229-0. PMID: 33108537
First custom next-generation sequencing infertility panel in Latin America: design and first results.
Lorenzi D, Fernández C, Bilinski M, Fabbro M, Galain M, Menazzi S, Miguens M, Perassi PN, Fulco MF, Kopelman S, Fiszbajn G, Nodar F, Papier S
JBRA Assist Reprod 2020 May 1;24(2):104-114. doi: 10.5935/1518-0557.20190065. PMID: 32155011Free PMC Article
DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population.
Sha Y, Yang X, Mei L, Ji Z, Wang X, Ding L, Li P, Yang S
Fertil Steril 2017 Jun;107(6):1312-1318.e2. doi: 10.1016/j.fertnstert.2017.04.007. PMID: 28577616
Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia.
Kusz-Zamelczyk K, Sajek M, Spik A, Glazar R, Jędrzejczak P, Latos-Bieleńska A, Kotecki M, Pawelczyk L, Jaruzelska J
J Med Genet 2013 Mar;50(3):187-93. Epub 2013 Jan 12 doi: 10.1136/jmedgenet-2012-101230. PMID: 23315541
A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts.
Tüttelmann F, Krenková P, Römer S, Nestorovic AR, Ljujic M, Stambergová A, Macek M Jr, Macek M Sr, Nieschlag E, Gromoll J, Simoni M
Int J Androl 2010 Feb;33(1):e240-8. Epub 2009 Oct 23 doi: 10.1111/j.1365-2605.2009.01003.x. PMID: 19863670

Diagnosis

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Celse T, Cazin C, Mietton F, Martinez G, Martinez D, Thierry-Mieg N, Septier A, Guillemain C, Beurois J, Clergeau A, Mustapha SFB, Kharouf M, Zoghmar A, Chargui A, Papaxanthos A, Dorphin B, Foliguet B, Triki C, Sifer C, Lauton D, Tachdjian G, Schuler G, Lejeune H, Puechberty J, Bessonnat J, Pasquier L, Mery L, Poulain M, Chaabouni M, Sermondade N, Cabry R, Benbouhadja S, Veau S, Frapsauce C, Mitchell V, Achard V, Satre V, Hennebicq S, Zouari R, Arnoult C, Kherraf ZE, Coutton C, Ray PF
Hum Genet 2021 Jan;140(1):43-57. Epub 2020 Oct 27 doi: 10.1007/s00439-020-02229-0. PMID: 33108537
First custom next-generation sequencing infertility panel in Latin America: design and first results.
Lorenzi D, Fernández C, Bilinski M, Fabbro M, Galain M, Menazzi S, Miguens M, Perassi PN, Fulco MF, Kopelman S, Fiszbajn G, Nodar F, Papier S
JBRA Assist Reprod 2020 May 1;24(2):104-114. doi: 10.5935/1518-0557.20190065. PMID: 32155011Free PMC Article
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.
Oud MS, Okutman Ö, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA
Hum Reprod 2020 Jan 1;35(1):240-252. doi: 10.1093/humrep/dez246. PMID: 31985809Free PMC Article
DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population.
Sha Y, Yang X, Mei L, Ji Z, Wang X, Ding L, Li P, Yang S
Fertil Steril 2017 Jun;107(6):1312-1318.e2. doi: 10.1016/j.fertnstert.2017.04.007. PMID: 28577616

Therapy

Single-center thorough evaluation and targeted treatment of globozoospermic men.
Cheung S, Parrella A, Tavares D, Keating D, Xie P, Rosenwaks Z, Palermo GD
J Assist Reprod Genet 2021 Aug;38(8):2073-2086. Epub 2021 Apr 20 doi: 10.1007/s10815-021-02191-4. PMID: 33877510Free PMC Article
Association between male infertility and androgen receptor mutations in Brazilian patients.
Melo CO, Danin AR, Silva DM, Tacon JA, Moura KK, Costa EO, da Cruz AD
Genet Mol Res 2010 Jan 26;9(1):128-33. doi: 10.4238/vol9-1gmr661. PMID: 20198568

Prognosis

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.
Oud MS, Okutman Ö, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA
Hum Reprod 2020 Jan 1;35(1):240-252. doi: 10.1093/humrep/dez246. PMID: 31985809Free PMC Article
DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population.
Sha Y, Yang X, Mei L, Ji Z, Wang X, Ding L, Li P, Yang S
Fertil Steril 2017 Jun;107(6):1312-1318.e2. doi: 10.1016/j.fertnstert.2017.04.007. PMID: 28577616

Clinical prediction guides

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.
Oud MS, Okutman Ö, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA
Hum Reprod 2020 Jan 1;35(1):240-252. doi: 10.1093/humrep/dez246. PMID: 31985809Free PMC Article
AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice.
Guidi LG, Holloway ZG, Arnoult C, Ray PF, Monaco AP, Molnár Z, Velayos-Baeza A
Sci Rep 2018 Jul 10;8(1):10379. doi: 10.1038/s41598-018-28666-6. PMID: 29991750Free PMC Article
DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population.
Sha Y, Yang X, Mei L, Ji Z, Wang X, Ding L, Li P, Yang S
Fertil Steril 2017 Jun;107(6):1312-1318.e2. doi: 10.1016/j.fertnstert.2017.04.007. PMID: 28577616
Y chromosome microdeletions: are they implicated in teratozoospermia?
Hellani A, Al-Hassan S, Al-Duraihim A, Coskun S
Hum Reprod 2005 Dec;20(12):3505-9. Epub 2005 Aug 25 doi: 10.1093/humrep/dei254. PMID: 16123092
Search for mutations involved in human globozoospermia.
Pirrello O, Machev N, Schimdt F, Terriou P, Ménézo Y, Viville S
Hum Reprod 2005 May;20(5):1314-8. Epub 2005 Mar 3 doi: 10.1093/humrep/deh799. PMID: 15746197

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