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Spermatogenic failure, Y-linked 2(SPGFY2)

MedGen UID:
326394
Concept ID:
C1839071
Disease or Syndrome
Synonyms: AZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED; OLIGOSPERMIA, NONOBSTRUCTIVE, Y-LINKED; OLIGOZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED; SPERMATOGENIC ARREST, Y-LINKED; SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED; SPGFY2; Y Chromosome Infertility
Modes of inheritance:
Y-linked inheritance
MedGen UID:
163055
Concept ID:
C0814045
Genetic Function
Sources: HPO, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.
Y-linked inheritance (HPO, Orphanet)
 
Genes (locations): BPY2 (Yq11.223); CDY1 (Yq11.23); CDY2A (Yq11.222); DAZ1 (Yq11.223); DAZ2 (Yq11.223); DAZ3 (Yq11.23); DDX3Y (Yq11.221); HSFY1 (Yq11.222); KDM5D (Yq11.223); PRY (Yq11.223); PRY2 (Yq11.223); RBMY1A1 (Yq11.223); RPS4Y2 (Yq11.223); USP9Y (Yq11.221); VCY (Yq11.221); XKRY (Yq11.222)
OMIM®: 415000

Disease characteristics

Excerpted from the GeneReview: Y Chromosome Infertility
Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 106 sperm/mL semen), moderate oligozoospermia (1-5 x 106 sperm/mL semen), or mild oligozoospermia (5-20 x 106 sperm/mL semen). Males with Y chromosome infertility usually have no obvious symptoms, although physical examination may reveal small testes. [from GeneReviews]
Authors:
Sherman J Silber  |  Christine M Disteche   view full author information

Additional descriptions

From OMIM
About 2 to 3% of human males are infertile because of defects in sperm function, primarily due to oligozoospermia (defined as less than 10-15 million sperm per mL of semen) or azoospermia (Hull et al., 1985). Heterogeneity of Spermatogenic Failure For a discussion of Y-linked spermatogenic failure due to Sertoli cell-only syndrome, see 400042. For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).  http://www.omim.org/entry/415000
From GHR
Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly.Some men with Y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. Assisted reproductive technologies may help other affected men; most men with Y chromosome infertility have some sperm cells in the testes that can be extracted for this purpose. The most severely affected men do not have any mature sperm cells in the testes. This form of Y chromosome infertility is called Sertoli cell-only syndrome.Men with Y chromosome infertility usually do not have any other signs or symptoms. Occasionally they may have unusually small testes or undescended testes (cryptorchidism).  https://ghr.nlm.nih.gov/condition/y-chromosome-infertility

Clinical features

Azoospermia
MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Absence of any measurable level of sperm in his semen.

Recent clinical studies

Etiology

Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. [Epub ahead of print] PMID: 24193344Free PMC Article
Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF
PLoS Genet 2013 Mar;9(3):e1003349. Epub 2013 Mar 21 doi: 10.1371/journal.pgen.1003349. PMID: 23555275Free PMC Article
Chellat D, Rezgoune ML, McElreavey K, Kherouatou N, Benbouhadja S, Douadi H, Cherifa B, Abadi N, Satta D
Urol Int 2013;90(4):455-9. Epub 2013 Mar 16 doi: 10.1159/000347046. [Epub ahead of print] PMID: 23548818
Chen P, Ma M, Li L, Zhang S, Su D, Ma Y, Liu Y, Tao D, Lin L, Yang Y
J Androl 2010 Mar-Apr;31(2):163-8. Epub 2009 Apr 2 doi: 10.2164/jandrol.108.007187. [Epub ahead of print] PMID: 19342699

Diagnosis

Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. [Epub ahead of print] PMID: 25170625
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. [Epub ahead of print] PMID: 24193344Free PMC Article
Chellat D, Rezgoune ML, McElreavey K, Kherouatou N, Benbouhadja S, Douadi H, Cherifa B, Abadi N, Satta D
Urol Int 2013;90(4):455-9. Epub 2013 Mar 16 doi: 10.1159/000347046. [Epub ahead of print] PMID: 23548818

Prognosis

Amaro A, Mafra FA, Valada Pane CE, Kulikowski LD, Bianco B, Barbosa CP, Christofolini DM
Urol Int 2015;94(4):488-90. Epub 2014 Aug 20 doi: 10.1159/000365010. [Epub ahead of print] PMID: 25170625
Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. [Epub ahead of print] PMID: 24193344Free PMC Article
Reijo R, Seligman J, Dinulos MB, Jaffe T, Brown LG, Disteche CM, Page DC
Genomics 1996 Jul 15;35(2):346-52. doi: 10.1006/geno.1996.0366. PMID: 8661148

Clinical prediction guides

Lo Giacco D, Chianese C, Sánchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castañé E, Oliva R, Ars E, Krausz C
Eur J Hum Genet 2014 Jun;22(6):754-61. Epub 2013 Nov 6 doi: 10.1038/ejhg.2013.253. [Epub ahead of print] PMID: 24193344Free PMC Article
Chellat D, Rezgoune ML, McElreavey K, Kherouatou N, Benbouhadja S, Douadi H, Cherifa B, Abadi N, Satta D
Urol Int 2013;90(4):455-9. Epub 2013 Mar 16 doi: 10.1159/000347046. [Epub ahead of print] PMID: 23548818
Chen P, Ma M, Li L, Zhang S, Su D, Ma Y, Liu Y, Tao D, Lin L, Yang Y
J Androl 2010 Mar-Apr;31(2):163-8. Epub 2009 Apr 2 doi: 10.2164/jandrol.108.007187. [Epub ahead of print] PMID: 19342699
Reijo R, Seligman J, Dinulos MB, Jaffe T, Brown LG, Disteche CM, Page DC
Genomics 1996 Jul 15;35(2):346-52. doi: 10.1006/geno.1996.0366. PMID: 8661148

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