MedGen

Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene. [from MONDO]

Spermatogenic arrest during meiosis is a cause of infertility. The histologic picture of meiotic arrest is rather constant. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n but are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules, degenerate, and are easily distinguishable from normal spermatocytes by their partially condensed chromosomes. Although the cause of infertility in patients with meiotic arrest often remains unidentified, this histologic picture can be observed in patients with nonidiopathic infertility as well, such as in the case of microdeletions of the Y chromosome, chromosomal abnormalities, and cryptorchidism, suggesting that different causal factors can result in the same effect (summary by Luetjens et al., 2004). Genetic Heterogeneity of Spermatogenic Failure See SPGF2 (108420), caused by mutation in the MSH4 gene (602105) on chromosome 1p31; SPGF3 (606766), caused by mutation in the SLC26A8 gene (608480) on chromosome 6p21; SPGF4 (270960), caused by mutation in the SYCP3 gene (604759) on chromosome 12q23; SPGF5 (243060), caused by mutation in the AURKC gene (603495) on chromosome 19q13; SPGF6 (102530), caused by mutation in the SPATA16 gene (609856) on chromosome 3q26; SPGF7 (612997), caused by mutation in the CATSPER gene (606389) on chromosome 11q13; SPGF8 (613957), caused by mutation in the NR5A1 gene (184757) on chromosome 9q33; SPGF9 (613958), caused by mutation in the DPY19L2 gene (613893) on chromosome 12q14; SPGF10 (614822), caused by mutation in the SEPT12 gene (611562) on chromosome 16p13; SPGF11 (615081), caused by mutation in the KLHL10 gene (608778) on chromosome 17p21; SPGF12 (615413), caused by mutation in the NANOS1 gene (608226) on chromosome 10q26; SPGF13 (615841), caused by mutation in the TAF4B gene (601689) on chromosome 18q11; SPGF14 (615842), caused by mutation in the ZMYND15 gene (614312) on chromosome 17p13; SPGF15 (616950), caused by mutation in the SYCE1 gene (611486) on chromosome 10q26; SPGF16 (617187), caused by mutation in the SUN5 gene (613942) on chromosome 20q11; SPGF17 (617214), caused by mutation in the PLCZ1 gene (608075) on chromosome 12p12; SPGF18 (617576), caused by mutation in the DNAH1 gene (603332) on chromosome 3p21; SPGF19 (617592), caused by mutation in the CFAP43 gene (617558) on chromosome 10q25; SPGF20 (617593), caused by mutation in the CFAP44 gene (617559) on chromosome 3q13; SPGF21 (617644), caused by mutation in the BRDT gene (602144) on chromosome 1p22; SPGF22 (617706), caused by mutation in the MEIOB gene (617670) on chromosome 16p13; SPGF23 (617707), caused by mutation in the TEX14 gene (605792) on chromosome 17q22; SPGF24 (617959), caused by mutation in the CFAP69 gene (617949) on chromosome 7q21; SPGF25 (617960), caused by mutation in the TEX15 gene (605795) on chromosome 8p12; SPGF26 (617961), caused by mutation in the TSGA10 gene (607166) on chromosome 2q11; SPGF27 (617965), caused by mutation in the AK7 gene (615364) on chromosome 14q32; SPGF28 (618086), caused by mutation in the FANCM gene (609644) on chromosome 14q21; SPGF29 (618091), caused by mutation in the SPINK2 gene (605753) on chromosome 4q12; SPGF30 (618110), caused by mutation in the TDRD9 gene (617963) on chromosome 14q32; SPGF31 (618112), caused by mutation in the PMFBP1 gene (618085) on chromosome 16q22; SPGF32 (618115), caused by mutation in the SOHLH1 gene (610224) on chromosome 9q34; SPGF33 (618152), caused by mutation in the WDR66 gene (618146) on chromosome 12q24; SPGF34 (618153), caused by mutation in the FSIP2 gene (615796) on chromosome 2q32; SPGF35, caused by mutation in the QRICH2 gene (618304) on chromosome 17q25; SPGF36 (618420), caused by mutation in the PPP2R3C gene (615902) on chromosome 14q13; SPGF37 (618429), caused by mutation in the TTC21A gene (611430) on chromosome 3p22; SPGF38 (618433), caused by mutation in the ARMC2 gene (618424) on chromosome 6q21; SPGF39 (618643), caused by mutation in the DNAH17 gene (610063) on chromosome 17q25; SPGF40 (618664), caused by mutation in the CFAP65 gene (614270) on chromosome 2q35; SPGF41 (618670), caused by mutation in the CFAP70 gene (618661) on chromosome 10q22; SPGF42 (618745), caused by mutation in the TTC29 gene (618735) on chromosome 4q31; SPGF43 (618751), caused by mutation in the SPEF2 gene (610172) on chromosome 5p13; SPGF44 (619044), caused by mutation in the CEP112 gene (618980) on chromosome 17q24; SPGF45 (619094), caused by mutation in the DNAH2 gene (603333) on chromosome 17p13; SPGF46 (619095), caused by mutation in the DNAH8 gene (603337) on chromosome 6p21; SPGF47 (619102), caused by mutation in the DZIP1 gene (608671) on chromosome 13q32; SPGF48 (619108), caused by mutation in the M1AP gene (619098) on chromosome 2p13; SPGF49 (619144), caused by mutation in the CFAP58 gene (619129) on chromosome 10q25; SPGF50 (619145), caused by mutation in the XRCC2 gene (600375) on chromosome 7q36; SPGF51 (619177), caused by mutation in the CFAP91 gene (609910) on chromosome 3q13; SPGF52 (619202), caused by mutation in the C14ORF39 gene (617307) on chromosome 14q23; SPGF53 (619258), caused by mutation in the ACTL9 gene (619251) on chromosome 19p13; SPGF54 (619379), caused by mutation in the CATIP gene (619387) on chromosome 2q35; SPGF55 (619380), caused by mutation in the SPAG17 gene (616554) on chromosome 1p12; SPGF56 (619515), caused by mutation in the DNAH10 gene (605884) on chromosome 12q24; SPGF57 (619528), caused by mutation in the PNLDC1 gene (619529) on chromosome 6q25; SPGF58 (619585), caused by mutation in the IFT74 gene (608040) on chromosome 9p21; SPGF59 (619645), caused by mutation in the TERB2 gene (617131) on chromosome 15q21; SPGF60 (619646), caused by mutation in the TERB1 gene (617332) on chromosome 16q22; SPGF61 (619672), caused by mutation in the STAG3 gene (608489) on chromosome 7q22; SPGF62 (619673), caused by mutation in the RNF212 gene (612041) on chromosome 4p16; SPGF63 (619689), caused by mutation in the RPL10L gene (619655) on chromosome 14q21; SPGF64 (619696), caused by mutation in the FBXO43 gene (609110) on chromosome 8q22; SPGF65 (619712), caused by mutation in the DNHD1 gene (617277) on chromosome 11p15; SPGF66 (619799), caused by mutation in the ZPBP gene (608498) on chromosome 7p12; SPGF67 (619803), caused by mutation in the CCDC62 gene (613481) on chromosome 12q24; SPGF68 (619805), caused by mutation in the C2CD6 gene (613481) on chromosome 2q33; SPGF69 (619826), caused by mutation in the GGN gene (609966) on chromosome 19q13; SPGF70 (619828), caused by mutation in the PDHA2 gene (179061) on chromosome 4q22; SPGF71 (619831), caused by mutation in the ZSWIM7 gene (614535) on chromosome 17p12; SPGF72 (619867), caused by mutation in the WDR19 gene (608151) on chromosome 4p14; SPGF73 (619878), caused by mutation in the MOV10L1 gene (605794) on chromosome 22q13; SPGF74 (619937), caused by mutation in the MSH5 gene (603382) on chromosome 6p21; SPGF75 (619949), caused by mutation in the SHOC1 gene (618038) on chromosome 9q31; SPGF76 (620084), caused by mutation in the CCDC34 gene (612324) on chromosome 11p14; SPGF77 (620103), caused by mutation in the FKBP6 gene (604839) on chromosome 7q11; SPGF78 (620170), caused by mutation in the IQCN gene (620160) on chromosome 19p13; SPGF79 (620196), caused by mutation in the KCNU1 gene (615215) on chromosome 8p11; SPGF80 (620222), caused by mutation in the DRC1 gene (615288) on chromosome 2p23; SPGF81 (620277), caused by mutation in the TEKT3 gene (612683) on chromosome 17p12; SPGF82 (620353), caused by mutation in the AKAP3 gene (604689) on chromosome 12p13; SPGF83 (620354), caused by mutation in the DNALI1 gene (602135) on chromosome 1p34; SPGF84 (620409), caused by mutation in the CFAP61 gene (620381) on chromosome 20p11; SPGF85 (620490), caused by mutation in [from OMIM]

Spermatogenic failure-22 (SPGF22) is characterized by male infertility due to spermatocyte maturation arrest resulting in cryptozoospermia or azoospermia (Gershoni et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-25 (SPGF25) is characterized by small testes and infertility, with severe oligozoospermia or azoospermia due to maturation arrest at the primary spermatocyte stage (Okutman et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-30 (SPGF30) is characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia. The few sperm that have been observed are immotile and have small heads. Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas (Arafat et al., 2017). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150. [from OMIM]

Spermatogenic failure-54 (SPGF54) is characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility (Arafat et al., 2021). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet. [from HPO]