Links from OMIM

SPERMATOGENIC FAILURE, X-LINKED, 9(SPGFX9)

MedGen UID:: 1055379
•Concept ID:: CN378837
•: Disease or Syndrome

Synonym:	SPGFX9

Gene (location): Gene(s) directly associated with this condition or phenotype.	RBBP7 (Xp22.2)

OMIM®:	301137

Definition

X-linked spermatogenic failure-9 (SPGFX9) is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest. A benign Leydig cell tumor was observed in 1 patient (Li et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

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

Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure.

Akinloye O, Gromoll J, Callies C, Nieschlag E, Simoni M
Andrologia 2007 Oct;39(5):190-5. doi: 10.1111/j.1439-0272.2007.00789.x. PMID: 17714218

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Diagnosis

Genomic testing for copy number and single nucleotide variants in spermatogenic failure.

Hardy J, Pollock N, Gingrich T, Sweet P, Ramesh A, Kuong J, Basar A, Jiang H, Hwang K, Vukina J, Jaffe T, Olszewska M, Kurpisz M, Yatsenko AN
J Assist Reprod Genet 2022 Sep;39(9):2103-2114. Epub 2022 Jul 18 doi: 10.1007/s10815-022-02538-5. PMID: 35849255 Free PMC Article

Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes.

Chen S, Wang G, Zheng X, Ge S, Dai Y, Ping P, Chen X, Liu G, Zhang J, Yang Y, Zhang X, Zhong A, Zhu Y, Chu Q, Huang Y, Zhang Y, Shen C, Yuan Y, Yuan Q, Pei X, Cheng CY, Sun F
Hum Mol Genet 2020 Aug 11;29(14):2451-2459. doi: 10.1093/hmg/ddaa101. PMID: 32469048

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