MedGen

Spermatogenic failure-2 (SPGF2) is characterized by male infertility due to azoospermia (Tang et al., 2020; Akbari et al., 2021). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency. [from GeneReviews]

Spermatogenic failure-28 (SPGF28) is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-57 (SPGF57) is characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage (Nagirnaja et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [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]

Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene. [from MONDO]

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-88 (SPGF88) is characterized by male infertility due to prepachytene meiotic arrest (Wu et al., 2022; Yang et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-61 (SPGF61) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete meiotic arrest at the primary spermatocyte stage (Riera-Escamilla et al., 2019;van der Bijl et al., 2019). Mutation in the STAG3 gene also causes premature ovarian failure (POF8; 615723), resulting in female infertility. For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-73 (SPGF73) is characterized by male infertility, resulting from nonobstructive azoospermia due to meiotic arrest (Li et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-32 (SPGF32) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern (Choi et al., 2010). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150. [from OMIM]

Spermatogenic failure-60 (SPGF60) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest before the pachytene stage (Krausz et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-75 (SPGF75) is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage (Krausz et al., 2020; Yao et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-71 (SPGF71) is characterized by male infertility due to nonobstructive azoospermia (Alhathal et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-59 (SPGF59) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest (Salas-Huetos et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-29 (SPGF29) is characterized by nonobstructive azoospermia or oligozoospermia. Sperm that are present are immotile and exhibit abnormal morphology, primarily defects of the acrosome and head-neck junction (Kherraf et al., 2017). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-62 (SPGF62) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete metaphase arrest at the spermatocyte stage (Riera-Escamilla et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Spermatogenic failure-74 (SPGF74) is characterized by nonobstructive azoospermia and male infertility due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage. Some men exhibit reduced testicular volume and/or reduced testosterone level (Wyrwoll et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. [from HPO]