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Pretesticular azoospermia

MedGen UID:
868702
•Concept ID:
C4023105
•
Finding
HPO: HP:0011963

Definition

Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPretesticular azoospermia

Professional guidelines

PubMed

Management of male factor infertility: position statement from the Italian Society of Andrology and Sexual Medicine (SIAMS) : Endorsing Organization: Italian Society of Embryology, Reproduction, and Research (SIERR).
Ferlin A, Calogero AE, Krausz C, Lombardo F, Paoli D, Rago R, Scarica C, Simoni M, Foresta C, Rochira V, Sbardella E, Francavilla S, Corona G
J Endocrinol Invest 2022 May;45(5):1085-1113. Epub 2022 Jan 24 doi: 10.1007/s40618-022-01741-6. PMID: 35075609
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article
Azoospermia: diagnosis and management.
Fuselier HA Jr, Beckman EN
South Med J 1981 Jun;74(6):731-4. PMID: 7244755

Recent clinical studies

Etiology

Management of male factor infertility: position statement from the Italian Society of Andrology and Sexual Medicine (SIAMS) : Endorsing Organization: Italian Society of Embryology, Reproduction, and Research (SIERR).
Ferlin A, Calogero AE, Krausz C, Lombardo F, Paoli D, Rago R, Scarica C, Simoni M, Foresta C, Rochira V, Sbardella E, Francavilla S, Corona G
J Endocrinol Invest 2022 May;45(5):1085-1113. Epub 2022 Jan 24 doi: 10.1007/s40618-022-01741-6. PMID: 35075609
Analysis of seminal plasma from patients with non-obstructive azoospermia and identification of candidate biomarkers of male infertility.
Batruch I, Smith CR, Mullen BJ, Grober E, Lo KC, Diamandis EP, Jarvi KA
J Proteome Res 2012 Mar 2;11(3):1503-11. Epub 2012 Feb 2 doi: 10.1021/pr200812p. PMID: 22188163
Azoospermia: diagnosis and management.
Fuselier HA Jr, Beckman EN
South Med J 1981 Jun;74(6):731-4. PMID: 7244755

Diagnosis

Management of male factor infertility: position statement from the Italian Society of Andrology and Sexual Medicine (SIAMS) : Endorsing Organization: Italian Society of Embryology, Reproduction, and Research (SIERR).
Ferlin A, Calogero AE, Krausz C, Lombardo F, Paoli D, Rago R, Scarica C, Simoni M, Foresta C, Rochira V, Sbardella E, Francavilla S, Corona G
J Endocrinol Invest 2022 May;45(5):1085-1113. Epub 2022 Jan 24 doi: 10.1007/s40618-022-01741-6. PMID: 35075609
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article
Pretesticular and Testicular Effects of Systemic Sarcoidosis: A Case Report.
Knox A, Black N, Agbaje I
J Reprod Med 2017 Mar-Apr;62(3-4):204-6. PMID: 30230796
Male infertility: pathogenesis and clinical diagnosis.
Krausz C
Best Pract Res Clin Endocrinol Metab 2011 Apr;25(2):271-85. doi: 10.1016/j.beem.2010.08.006. PMID: 21397198
Azoospermia: diagnosis and management.
Fuselier HA Jr, Beckman EN
South Med J 1981 Jun;74(6):731-4. PMID: 7244755

Therapy

Pretesticular and Testicular Effects of Systemic Sarcoidosis: A Case Report.
Knox A, Black N, Agbaje I
J Reprod Med 2017 Mar-Apr;62(3-4):204-6. PMID: 30230796

Prognosis

Cellular Therapy via Spermatogonial Stem Cells for Treating Impaired Spermatogenesis, Non-Obstructive Azoospermia.
Abdelaal NE, Tanga BM, Abdelgawad M, Allam S, Fathi M, Saadeldin IM, Bang S, Cho J
Cells 2021 Jul 14;10(7) doi: 10.3390/cells10071779. PMID: 34359947Free PMC Article
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article
Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China.
Geng D, Zhang H, Liu X, Fei J, Jiang Y, Liu R, Wang R, Zhang G
J Clin Lab Anal 2020 Apr;34(4):e23139. Epub 2019 Dec 10 doi: 10.1002/jcla.23139. PMID: 31821609Free PMC Article
Azoospermia: diagnosis and management.
Fuselier HA Jr, Beckman EN
South Med J 1981 Jun;74(6):731-4. PMID: 7244755

Clinical prediction guides

Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China.
Geng D, Zhang H, Liu X, Fei J, Jiang Y, Liu R, Wang R, Zhang G
J Clin Lab Anal 2020 Apr;34(4):e23139. Epub 2019 Dec 10 doi: 10.1002/jcla.23139. PMID: 31821609Free PMC Article
Hormonal approaches to male contraception: approaching reality.
Wu FC
Mol Cell Endocrinol 2006 May 16;250(1-2):2-7. Epub 2006 Mar 31 doi: 10.1016/j.mce.2005.12.017. PMID: 16580772

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