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Spermatogenic failure, X-linked, 4(SPGFX4)

MedGen UID:: 1804024
•Concept ID:: C5676882
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4

Gene (location): Gene(s) directly associated with this condition or phenotype.	GCNA (Xq13.1)

Monarch Initiative:	MONDO:0024773
OMIM®:	301077

Definition

X-linked spermatogenic failure-4 (SPGFX4) is characterized by male infertility due to azoospermia or oligoasthenoteratozoospermia. Some patients show maturation arrest, and Sertoli cell-only phenotype has been observed (Hardy et al., 2021; Arafat et al., 2021; Kherraf et al., 2022). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

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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Abnormal prolactin level

MedGen UID:: 868057
•Concept ID:: C4022448
•: Finding

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Elevated circulating follicle stimulating hormone level

MedGen UID:: 867192
•Concept ID:: C4021550
•: Finding

An elevated concentration of follicle-stimulating hormone in the blood.

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Elevated circulating luteinizing hormone level

MedGen UID:: 868698
•Concept ID:: C4023101
•: Finding

An elevated concentration of luteinizing hormone in the blood.

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Decreased serum testosterone concentration

MedGen UID:: 892974
•Concept ID:: C4073137
•: Finding

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Abnormality of the endocrine system
Abnormality of the genitourinary system
- Azoospermia
- Male infertility
Abnormality of the nervous system
- Abnormal prolactin level

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: 23555275 Free PMC Article

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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: 35809576 Free PMC Article

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Spermatogenic failure, X-linked, 4(SPGFX4)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

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