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Round spermatid arrest

MedGen UID:
1386128
Concept ID:
C4476926
Finding
Synonyms: Late spermatogenesis maturation arrest; Maturation arrest of spermatogenesis at spermatid stage
 
HPO: HP:0031040

Definition

A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa. [from HPO]

Conditions with this feature

Spermatogenic failure 14
MedGen UID:
862891
Concept ID:
C4014454
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.

Professional guidelines

PubMed

Hou M, Eriksson E, Svechnikov K, Jahnukainen K, Söder O, Meinhardt A, Sävendahl L
Mol Cancer 2014 Jun 20;13:155. doi: 10.1186/1476-4598-13-155. PMID: 24950741Free PMC Article
Tesarik J, Mendoza C, Greco E
Front Biosci 1998 Dec 15;3:E238-46. doi: 10.2741/a383. PMID: 9851915

Recent clinical studies

Diagnosis

Wyrwoll MJ, Gaasbeek CM, Golubickaite I, Stakaitis R, Oud MS, Nagirnaja L, Dion C, Sindi EB, Leitch HG, Jayasena CN, Sironen A, Dicke AK, Rotte N, Stallmeyer B, Kliesch S, Grangeiro CHP, Araujo TF, Lasko P; Genetics of Male Infertility Initiative (GEMINI) consortium, D'Hauwers K, Smits RM, Ramos L, Xavier MJ, Conrad DF, Almstrup K, Veltman JA, Tüttelmann F, van der Heijden GW
Am J Hum Genet 2022 Oct 6;109(10):1850-1866. Epub 2022 Sep 22 doi: 10.1016/j.ajhg.2022.09.002. PMID: 36150389Free PMC Article

Therapy

Vouk K, Hudler P, Strmsnik L, Fink M, Majdic G, Zorn B, Lalli E, Sassone-Corsi P, Debeljak N, Komel R, Rozman D
Mol Hum Reprod 2005 Aug;11(8):567-74. Epub 2005 Sep 2 doi: 10.1093/molehr/gah209. PMID: 16143638

Prognosis

Wyrwoll MJ, Gaasbeek CM, Golubickaite I, Stakaitis R, Oud MS, Nagirnaja L, Dion C, Sindi EB, Leitch HG, Jayasena CN, Sironen A, Dicke AK, Rotte N, Stallmeyer B, Kliesch S, Grangeiro CHP, Araujo TF, Lasko P; Genetics of Male Infertility Initiative (GEMINI) consortium, D'Hauwers K, Smits RM, Ramos L, Xavier MJ, Conrad DF, Almstrup K, Veltman JA, Tüttelmann F, van der Heijden GW
Am J Hum Genet 2022 Oct 6;109(10):1850-1866. Epub 2022 Sep 22 doi: 10.1016/j.ajhg.2022.09.002. PMID: 36150389Free PMC Article
Vouk K, Hudler P, Strmsnik L, Fink M, Majdic G, Zorn B, Lalli E, Sassone-Corsi P, Debeljak N, Komel R, Rozman D
Mol Hum Reprod 2005 Aug;11(8):567-74. Epub 2005 Sep 2 doi: 10.1093/molehr/gah209. PMID: 16143638

Clinical prediction guides

Wyrwoll MJ, Gaasbeek CM, Golubickaite I, Stakaitis R, Oud MS, Nagirnaja L, Dion C, Sindi EB, Leitch HG, Jayasena CN, Sironen A, Dicke AK, Rotte N, Stallmeyer B, Kliesch S, Grangeiro CHP, Araujo TF, Lasko P; Genetics of Male Infertility Initiative (GEMINI) consortium, D'Hauwers K, Smits RM, Ramos L, Xavier MJ, Conrad DF, Almstrup K, Veltman JA, Tüttelmann F, van der Heijden GW
Am J Hum Genet 2022 Oct 6;109(10):1850-1866. Epub 2022 Sep 22 doi: 10.1016/j.ajhg.2022.09.002. PMID: 36150389Free PMC Article
Vouk K, Hudler P, Strmsnik L, Fink M, Majdic G, Zorn B, Lalli E, Sassone-Corsi P, Debeljak N, Komel R, Rozman D
Mol Hum Reprod 2005 Aug;11(8):567-74. Epub 2005 Sep 2 doi: 10.1093/molehr/gah209. PMID: 16143638

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