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Spermatogenic failure, X-linked, 2(SPGFX2)

MedGen UID:
374322
•Concept ID:
C1839841
•
Disease or Syndrome
Synonyms: MALE INFERTILITY FROM DEFECT IN MEIOSIS; SPGFX2
 
Gene (location): TEX11 (Xq13.1)
 
Monarch Initiative: MONDO:0010647
OMIM®: 309120

Definition

Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene. [from MONDO]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
•Concept ID:
C0004509
•
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
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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.
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Testicular atrophy
MedGen UID:
57626
•Concept ID:
C0156312
•
Disease or Syndrome
Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.
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Spermatogenesis maturation arrest
MedGen UID:
1374029
•Concept ID:
C4477100
•
Finding
Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.
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Recent clinical studies

Etiology

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
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

Diagnosis

Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E; GEMINI Consortium, Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz C
Am J Hum Genet 2022 Aug 4;109(8):1458-1471. Epub 2022 Jul 8 doi: 10.1016/j.ajhg.2022.06.007. PMID: 35809576Free PMC Article

Clinical prediction guides

A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts.
Milunsky A, Milunsky JM, Dong W, Hovhannisyan H, Oates RD
J Assist Reprod Genet 2020 Feb;37(2):471-475. Epub 2020 Jan 9 doi: 10.1007/s10815-019-01685-6. PMID: 31916079Free PMC Article

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