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Abnormal circulating testosterone concentration

MedGen UID:
663334
Concept ID:
C0580454
Finding
Synonyms: Abnormal serum testosterone level; Abnormal testosterone level; Serum testosterone level abnormal; Serum testosterone level outside reference range
SNOMED CT: Serum testosterone level abnormal (166458009); Serum testosterone level outside reference range (166458009)
 
HPO: HP:0030087

Definition

An anomalous concentration of testosterone in the blood. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal circulating testosterone concentration

Conditions with this feature

Spermatogenic failure 2
MedGen UID:
400056
Concept ID:
C1862459
Finding
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).
Spermatogenic failure 13
MedGen UID:
862886
Concept ID:
C4014449
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.
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.
Spermatogenic failure 15
MedGen UID:
934746
Concept ID:
C4310779
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.
Spermatogenic failure 44
MedGen UID:
1750188
Concept ID:
C5436678
Disease or Syndrome
Spermatogenic failure-44 (SPGF44) is characterized by male infertility due to headless sperm in the ejaculate (Sha et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 77
MedGen UID:
1824018
Concept ID:
C5774245
Disease or Syndrome
Spermatogenic failure-77 (SPGF77) is characterized by male infertility due to extreme oligozoospermia or azoospermia. Nearly all spermatozoa present on semen analysis are morphologically abnormal, with amorphous, enlarged, and/or fragmented heads, and some are multiflagellated. Testicular tissue shows arrest at the round spermatid stage (Wyrwoll et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

Professional guidelines

PubMed

Pugeat M, Plotton I, de la Perrière AB, Raverot G, Déchaud H, Raverot V
Eur J Endocrinol 2018 Apr;178(4):R141-R154. Epub 2018 Feb 16 doi: 10.1530/EJE-17-0776. PMID: 29453202
Hohl A, Ronsoni MF, Oliveira Md
Arq Bras Endocrinol Metabol 2014 Mar;58(2):97-107. doi: 10.1590/0004-2730000002923. PMID: 24830586
Pugeat M, Crave JC, Tourniaire J, Forest MG
Horm Res 1996;45(3-5):148-55. doi: 10.1159/000184778. PMID: 8964574

Recent clinical studies

Etiology

Millán-de-Meer M, Luque-Ramírez M, Nattero-Chávez L, Escobar-Morreale HF
Hum Reprod Update 2023 Nov 2;29(6):741-772. doi: 10.1093/humupd/dmad015. PMID: 37353908
Coradini D, Oriana S
Clin Obes 2021 Feb;11(1):e12423. Epub 2020 Nov 1 doi: 10.1111/cob.12423. PMID: 33135396
Voutilainen R, Jääskeläinen J
J Steroid Biochem Mol Biol 2015 Jan;145:226-36. Epub 2014 Jun 9 doi: 10.1016/j.jsbmb.2014.06.004. PMID: 24923732
Wu FC, von Eckardstein A
Endocr Rev 2003 Apr;24(2):183-217. doi: 10.1210/er.2001-0025. PMID: 12700179
Pugeat M, Crave JC, Tourniaire J, Forest MG
Horm Res 1996;45(3-5):148-55. doi: 10.1159/000184778. PMID: 8964574

Diagnosis

Millán-de-Meer M, Luque-Ramírez M, Nattero-Chávez L, Escobar-Morreale HF
Hum Reprod Update 2023 Nov 2;29(6):741-772. doi: 10.1093/humupd/dmad015. PMID: 37353908
Voutilainen R, Jääskeläinen J
J Steroid Biochem Mol Biol 2015 Jan;145:226-36. Epub 2014 Jun 9 doi: 10.1016/j.jsbmb.2014.06.004. PMID: 24923732
Hohl A, Ronsoni MF, Oliveira Md
Arq Bras Endocrinol Metabol 2014 Mar;58(2):97-107. doi: 10.1590/0004-2730000002923. PMID: 24830586
Nestler JE
Hum Reprod 1997 Oct;12 Suppl 1:53-62. doi: 10.1093/humrep/12.suppl_1.53. PMID: 9403321
Rosenfield RL
Pediatr Clin North Am 1990 Dec;37(6):1333-58. doi: 10.1016/s0031-3955(16)37014-6. PMID: 2259543

Therapy

Millán-de-Meer M, Luque-Ramírez M, Nattero-Chávez L, Escobar-Morreale HF
Hum Reprod Update 2023 Nov 2;29(6):741-772. doi: 10.1093/humupd/dmad015. PMID: 37353908
Leichtnam ML, Rolland H, Wüthrich P, Guy RH
Pharm Res 2006 Jun;23(6):1117-32. Epub 2006 Jun 9 doi: 10.1007/s11095-006-0072-5. PMID: 16755346
Wu FC, von Eckardstein A
Endocr Rev 2003 Apr;24(2):183-217. doi: 10.1210/er.2001-0025. PMID: 12700179
Henzl MR
J Reprod Med 2001 Jul;46(7):647-61. PMID: 11499185
Pugeat M, Crave JC, Tourniaire J, Forest MG
Horm Res 1996;45(3-5):148-55. doi: 10.1159/000184778. PMID: 8964574

Prognosis

Millán-de-Meer M, Luque-Ramírez M, Nattero-Chávez L, Escobar-Morreale HF
Hum Reprod Update 2023 Nov 2;29(6):741-772. doi: 10.1093/humupd/dmad015. PMID: 37353908
Ljubicic ML, Jørgensen A, Aksglaede L, Nielsen JE, Albrethsen J, Juul A, Johannsen TH
Front Endocrinol (Lausanne) 2021;12:709954. Epub 2021 Aug 10 doi: 10.3389/fendo.2021.709954. PMID: 34447353Free PMC Article
Calderón B, Gómez-Martín JM, Cuadrado-Ayuso M, Cobeta P, Vega-Piñero B, Mateo R, Galindo J, Botella-Carretero JI
Nutrients 2020 Oct 30;12(11) doi: 10.3390/nu12113354. PMID: 33143218Free PMC Article
Johansson H, Bonanni B, Gandini S, Guerrieri-Gonzaga A, Cazzaniga M, Serrano D, Macis D, Puccio A, Sandri MT, Gulisano M, Formelli F, Decensi A
Breast Cancer Res Treat 2013 Dec;142(3):569-78. Epub 2013 Nov 17 doi: 10.1007/s10549-013-2768-7. PMID: 24241787
Jankowska EA, Rozentryt P, Ponikowska B, Hartmann O, Kustrzycka-Kratochwil D, Reczuch K, Nowak J, Borodulin-Nadzieja L, Polonski L, Banasiak W, Poole-Wilson PA, Anker SD, Ponikowski P
JAMA 2009 May 13;301(18):1892-901. doi: 10.1001/jama.2009.639. PMID: 19436016

Clinical prediction guides

Mariani M, Fintini D, Cirillo G, Palumbo S, Del Giudice EM, Bocchini S, Manco M, Cappa M, Grandone A
J Endocrinol Invest 2022 Nov;45(11):2165-2170. Epub 2022 Jul 19 doi: 10.1007/s40618-022-01860-0. PMID: 35854182
Ljubicic ML, Jørgensen A, Aksglaede L, Nielsen JE, Albrethsen J, Juul A, Johannsen TH
Front Endocrinol (Lausanne) 2021;12:709954. Epub 2021 Aug 10 doi: 10.3389/fendo.2021.709954. PMID: 34447353Free PMC Article
Wu FC, von Eckardstein A
Endocr Rev 2003 Apr;24(2):183-217. doi: 10.1210/er.2001-0025. PMID: 12700179
Pugeat M, Crave JC, Tourniaire J, Forest MG
Horm Res 1996;45(3-5):148-55. doi: 10.1159/000184778. PMID: 8964574
Mahajan DK
Endocrinol Metab Clin North Am 1988 Dec;17(4):751-69. PMID: 3143567

Recent systematic reviews

Millán-de-Meer M, Luque-Ramírez M, Nattero-Chávez L, Escobar-Morreale HF
Hum Reprod Update 2023 Nov 2;29(6):741-772. doi: 10.1093/humupd/dmad015. PMID: 37353908

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