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Primary testicular failure

MedGen UID:
235162
Concept ID:
C1384582
Disease or Syndrome
Synonym: Hypergonadotropic hypogonadism (males)
SNOMED CT: Primary testicular failure (370997001); Primary failure of the testes (370997001); Primary gonadal failure (48723006); Primary male hypogonadism (48723006)
 
HPO: HP:0008720

Definition

Testicular failure due to a condition directly affecting the testes. [from NCI]

Conditions with this feature

Familial cutaneous collagenoma
MedGen UID:
96073
Concept ID:
C0406817
Neoplastic Process
Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.

Professional guidelines

PubMed

Rey RA, Grinspon RP
Am J Mens Health 2020 May-Jun;14(3):1557988320922443. doi: 10.1177/1557988320922443. PMID: 32448030Free PMC Article
Huhtaniemi I
Asian J Androl 2014 Mar-Apr;16(2):192-202. doi: 10.4103/1008-682X.122336. PMID: 24407185Free PMC Article
Wespes E, Schulman CC
Int J Impot Res 2002 Feb;14 Suppl 1:S93-8. doi: 10.1038/sj.ijir.3900798. PMID: 11850741

Recent clinical studies

Etiology

Sharma KR, Sharma H, Vishnoi J, Sharma RK, Goel S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443335
Tao Y
Asian J Androl 2022 May-Jun;24(3):274-286. doi: 10.4103/aja202181. PMID: 35042310Free PMC Article
Winters SJ
J Clin Endocrinol Metab 2021 Sep 27;106(10):2819-2827. doi: 10.1210/clinem/dgab430. PMID: 34125228
Krausz C, Escamilla AR, Chianese C
Reproduction 2015 Nov;150(5):R159-74. doi: 10.1530/REP-15-0261. PMID: 26447148
Seth A, Rajpal S, Penn RL
Am J Med Sci 2013 Aug;346(2):164-5. doi: 10.1097/MAJ.0b013e31828318cd. PMID: 23377169

Diagnosis

Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855Free PMC Article
Khera M, Broderick GA, Carson CC 3rd, Dobs AS, Faraday MM, Goldstein I, Hakim LS, Hellstrom WJ, Kacker R, Köhler TS, Mills JN, Miner M, Sadeghi-Nejad H, Seftel AD, Sharlip ID, Winters SJ, Burnett AL
Mayo Clin Proc 2016 Jul;91(7):908-26. Epub 2016 Jun 21 doi: 10.1016/j.mayocp.2016.04.022. PMID: 27343020
Huhtaniemi I
Asian J Androl 2014 Mar-Apr;16(2):192-202. doi: 10.4103/1008-682X.122336. PMID: 24407185Free PMC Article
Krausz C
Best Pract Res Clin Endocrinol Metab 2011 Apr;25(2):271-85. doi: 10.1016/j.beem.2010.08.006. PMID: 21397198
Lee PA, O'Dea LS
Pediatr Clin North Am 1990 Dec;37(6):1359-87. doi: 10.1016/s0031-3955(16)37015-8. PMID: 2259544

Therapy

Tao Y
Asian J Androl 2022 May-Jun;24(3):274-286. doi: 10.4103/aja202181. PMID: 35042310Free PMC Article
Rey RA, Grinspon RP
Am J Mens Health 2020 May-Jun;14(3):1557988320922443. doi: 10.1177/1557988320922443. PMID: 32448030Free PMC Article
Khera M, Broderick GA, Carson CC 3rd, Dobs AS, Faraday MM, Goldstein I, Hakim LS, Hellstrom WJ, Kacker R, Köhler TS, Mills JN, Miner M, Sadeghi-Nejad H, Seftel AD, Sharlip ID, Winters SJ, Burnett AL
Mayo Clin Proc 2016 Jul;91(7):908-26. Epub 2016 Jun 21 doi: 10.1016/j.mayocp.2016.04.022. PMID: 27343020
Seth A, Rajpal S, Penn RL
Am J Med Sci 2013 Aug;346(2):164-5. doi: 10.1097/MAJ.0b013e31828318cd. PMID: 23377169
Lee PA, O'Dea LS
Pediatr Clin North Am 1990 Dec;37(6):1359-87. doi: 10.1016/s0031-3955(16)37015-8. PMID: 2259544

Prognosis

Chen X, Yang L, Li J, Tan H
BMC Endocr Disord 2022 Nov 12;22(1):278. doi: 10.1186/s12902-022-01150-z. PMID: 36371175Free PMC Article
Buchli C, Martling A, Abani MA, Frödin JE, Bottai M, Lax I, Arver S, Holm T
Ann Surg 2018 Feb;267(2):326-331. doi: 10.1097/SLA.0000000000002081. PMID: 27849668
Hirsch HJ, Eldar-Geva T, Bennaroch F, Pollak Y, Gross-Tsur V
Hum Reprod 2015 Nov;30(11):2587-96. Epub 2015 Sep 6 doi: 10.1093/humrep/dev213. PMID: 26345685
Quaranta BP, Halperin EC, Kurtzberg J, Clough R, Martin PL
Cancer 2004 Aug 15;101(4):845-50. doi: 10.1002/cncr.20413. PMID: 15305418
O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J
Am J Kidney Dis 1996 Jun;27(6):776-83. doi: 10.1016/s0272-6386(96)90513-2. PMID: 8651240

Clinical prediction guides

Sharma KR, Sharma H, Vishnoi J, Sharma RK, Goel S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443335
Hedges JC, Hanna CB, Bash JC, Boniface ER, Burch FC, Mahalingaiah S, Roberts VHJ, Terrobias JJD, Mishler EC, Jensen JV, Easley CA 4th, Lo JO
Fertil Steril 2022 Apr;117(4):698-707. Epub 2022 Jan 25 doi: 10.1016/j.fertnstert.2021.12.028. PMID: 35090702Free PMC Article
Coopmans EC, Chunharojrith P, Neggers SJCMM, van der Ent MW, Swagemakers SMA, Hollink IH, Barendregt BH, van der Spek PJ, van der Lely AJ, van Hagen PM, Dalm VASH
Front Immunol 2019;10:2079. Epub 2019 Aug 30 doi: 10.3389/fimmu.2019.02079. PMID: 31543881Free PMC Article
Ahern T, Swiecicka A, Eendebak RJ, Carter EL, Finn JD, Pye SR, O'Neill TW, Antonio L, Keevil B, Bartfai G, Casanueva FF, Forti G, Giwercman A, Han TS, Kula K, Lean ME, Pendleton N, Punab M, Rastrelli G, Rutter MK, Vanderschueren D, Huhtaniemi IT, Wu FC; EMAS study group
Clin Endocrinol (Oxf) 2016 Dec;85(6):891-901. Epub 2016 Aug 18 doi: 10.1111/cen.13152. PMID: 27374987
Sher ES, Migeon CJ, Berkovitz GD
Clin Pediatr (Phila) 1998 Jun;37(6):367-71. doi: 10.1177/000992289803700606. PMID: 9637901

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