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Spermatogenic failure, Y-linked, 1(SPGFY1)

MedGen UID:
1634798
Concept ID:
C4551960
Disease or Syndrome
Synonyms: SERTOLI CELL-ONLY SYNDROME, TYPE I; SERTOLI CELL-ONLY SYNDROME, Y-LINKED; SPGFY1
 
Monarch Initiative: MONDO:0010763
OMIM®: 400042

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:
Yuting Fan  |  Sherman J Silber   view full author information

Additional descriptions

From OMIM
In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules (Sargent et al., 1999). Another, possibly X-linked, form of Sertoli cell-only syndrome has also been reported (305700). Heterogeneity of Spermatogenic Failure See 415000 for a general discussion of the AZF region of the Y chromosome and Y-linked nonobstructive spermatogenic failure. For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).  http://www.omim.org/entry/400042
From MedlinePlus Genetics
Some men with Y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. Men with oligospermia may also be helped with assisted reproductive technologies; most men with Y chromosome infertility have some sperm cells in the testes that can be extracted for this purpose.

Y chromosome infertility is a condition that affects the production of sperm and causes male infertility, which means it is difficult or impossible for affected men to father children. An affected man's body may produce no mature sperm cells (azoospermia), fewer than the usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. Men with Y chromosome infertility do not have any other signs or symptoms related to the condition.  https://medlineplus.gov/genetics/condition/y-chromosome-infertility

Clinical features

From HPO
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.
Reduced sperm motility
MedGen UID:
98339
Concept ID:
C0403823
Disease or Syndrome
An abnormal reduction in the mobility of ejaculated sperm.

Professional guidelines

PubMed

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. PMID: 24193344Free PMC Article

Recent clinical studies

Etiology

Vijesh VV, Nambiar V, Mohammed SI, Sukumaran S, Suganthi R
Genet Test Mol Biomarkers 2015 Mar;19(3):150-5. Epub 2015 Jan 16 doi: 10.1089/gtmb.2014.0251. PMID: 25594150Free PMC Article
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. PMID: 24193344Free PMC Article
Lu C, Wang Y, Zhang F, Lu F, Xu M, Qin Y, Wu W, Li S, Song L, Yang S, Wu D, Jin L, Shen H, Sha J, Xia Y, Hu Z, Wang X
Hum Reprod 2013 Sep;28(9):2440-9. Epub 2013 May 21 doi: 10.1093/humrep/det234. PMID: 23696539
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. PMID: 23548818

Diagnosis

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. 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. PMID: 23548818
Kumari A, Yadav SK, Ali S
PLoS One 2012;7(7):e41488. Epub 2012 Jul 23 doi: 10.1371/journal.pone.0041488. PMID: 22844483Free PMC Article
Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, Meisner L, Chandley A, Gouchy G, Jorgensen L, Havighurst T, Grosch J
Mol Reprod Dev 1999 May;53(1):27-41. doi: 10.1002/(SICI)1098-2795(199905)53:1<27::AID-MRD4>3.0.CO;2-W. PMID: 10230814

Prognosis

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. PMID: 24193344Free PMC Article
Plotton I, Ducros C, Pugeat M, Morel Y, Lejeune H
Fertil Steril 2010 Dec;94(7):2770.e11-6. Epub 2010 Jun 9 doi: 10.1016/j.fertnstert.2010.04.038. PMID: 20542509
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

Vijesh VV, Nambiar V, Mohammed SI, Sukumaran S, Suganthi R
Genet Test Mol Biomarkers 2015 Mar;19(3):150-5. Epub 2015 Jan 16 doi: 10.1089/gtmb.2014.0251. PMID: 25594150Free PMC Article
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. 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. PMID: 23548818
Kumari A, Yadav SK, Ali S
PLoS One 2012;7(7):e41488. Epub 2012 Jul 23 doi: 10.1371/journal.pone.0041488. PMID: 22844483Free PMC Article
Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC, Rozen S
Genomics 2004 Jun;83(6):1046-52. doi: 10.1016/j.ygeno.2003.12.018. PMID: 15177557

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