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Absence of secondary sex characteristics

MedGen UID:
867193
Concept ID:
C4021551
Finding
Synonym: No secondary sexual characteristics at puberty
 
HPO: HP:0008187

Definition

No secondary sexual characteristics are present at puberty. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsence of secondary sex characteristics

Conditions with this feature

46,XY sex reversal 1
MedGen UID:
412662
Concept ID:
C2748896
Disease or Syndrome
Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.

Professional guidelines

PubMed

Kumar Yadav R, Qi B, Wen J, Gang X, Banerjee S
Clin Chim Acta 2025 Jan 15;565:119994. Epub 2024 Oct 9 doi: 10.1016/j.cca.2024.119994. PMID: 39384129
Rey RA, Grinspon RP
Am J Mens Health 2020 May-Jun;14(3):1557988320922443. doi: 10.1177/1557988320922443. PMID: 32448030Free PMC Article
Voß U, Lewerenz A, Nieber K
Handb Exp Pharmacol 2012;(214):473-97. doi: 10.1007/978-3-642-30726-3_21. PMID: 23027463

Recent clinical studies

Etiology

Kumar Yadav R, Qi B, Wen J, Gang X, Banerjee S
Clin Chim Acta 2025 Jan 15;565:119994. Epub 2024 Oct 9 doi: 10.1016/j.cca.2024.119994. PMID: 39384129
Burton TM, Madsen TE, Karb R, Furie KL
J Stroke Cerebrovasc Dis 2024 Aug;33(8):107735. Epub 2024 Apr 26 doi: 10.1016/j.jstrokecerebrovasdis.2024.107735. PMID: 38679215
Maranon R, Reckelhoff JF
Clin Sci (Lond) 2013 Oct;125(7):311-8. doi: 10.1042/CS20130140. PMID: 23746374Free PMC Article
Waldén M, Atroshi I, Magnusson H, Wagner P, Hägglund M
BMJ 2012 May 3;344:e3042. doi: 10.1136/bmj.e3042. PMID: 22556050Free PMC Article
Searle SD, Mitnitski A, Gahbauer EA, Gill TM, Rockwood K
BMC Geriatr 2008 Sep 30;8:24. doi: 10.1186/1471-2318-8-24. PMID: 18826625Free PMC Article

Diagnosis

Kumar Yadav R, Qi B, Wen J, Gang X, Banerjee S
Clin Chim Acta 2025 Jan 15;565:119994. Epub 2024 Oct 9 doi: 10.1016/j.cca.2024.119994. PMID: 39384129
Delli Paoli E, Di Chiano S, Paoli D, Lenzi A, Lombardo F, Pallotti F
J Endocrinol Invest 2023 Nov;46(11):2237-2245. Epub 2023 Jun 10 doi: 10.1007/s40618-023-02127-y. PMID: 37300628
Liang X, Gao X, Wang F, Li S, Zhou Y, Guo P, Meng Y, Lu T
Cancer Med 2023 Jul;12(13):14171-14182. Epub 2023 May 15 doi: 10.1002/cam4.6083. PMID: 37184108Free PMC Article
Sultan C, Gaspari L, Maimoun L, Kalfa N, Paris F
Best Pract Res Clin Obstet Gynaecol 2018 Apr;48:62-89. Epub 2017 Nov 14 doi: 10.1016/j.bpobgyn.2017.11.004. PMID: 29422239
Searle SD, Mitnitski A, Gahbauer EA, Gill TM, Rockwood K
BMC Geriatr 2008 Sep 30;8:24. doi: 10.1186/1471-2318-8-24. PMID: 18826625Free PMC Article

Therapy

Burton TM, Madsen TE, Karb R, Furie KL
J Stroke Cerebrovasc Dis 2024 Aug;33(8):107735. Epub 2024 Apr 26 doi: 10.1016/j.jstrokecerebrovasdis.2024.107735. PMID: 38679215
Lopez-Villegas A, Leal-Costa C, Perez-Heredia M, Villegas-Tripiana I, Catalán-Matamoros D
Int J Environ Res Public Health 2021 Nov 18;18(22) doi: 10.3390/ijerph182212120. PMID: 34831876Free PMC Article
Wang M, Jiang N, Li C, Wang J, Yang H, Liu L, Tan X, Chen Z, Gong Y, Yin X, Zong Q, Xiong N, Zhang G
Front Cell Infect Microbiol 2021;11:680422. Epub 2021 May 26 doi: 10.3389/fcimb.2021.680422. PMID: 34123876Free PMC Article
Rey RA, Grinspon RP
Am J Mens Health 2020 May-Jun;14(3):1557988320922443. doi: 10.1177/1557988320922443. PMID: 32448030Free PMC Article
Waldén M, Atroshi I, Magnusson H, Wagner P, Hägglund M
BMJ 2012 May 3;344:e3042. doi: 10.1136/bmj.e3042. PMID: 22556050Free PMC Article

Prognosis

Buja A, De Luca G, Zorzi M, Bovo E, Mocellin S, Trevisiol C, Bronte V, Guzzinati S, Rugge M
Front Public Health 2023;11:1267534. Epub 2024 Jan 8 doi: 10.3389/fpubh.2023.1267534. PMID: 38259775Free PMC Article
Liang X, Gao X, Wang F, Li S, Zhou Y, Guo P, Meng Y, Lu T
Cancer Med 2023 Jul;12(13):14171-14182. Epub 2023 May 15 doi: 10.1002/cam4.6083. PMID: 37184108Free PMC Article
Ohkuwa K, Katoh R, Sugino K, Nagahama M, Kitagawa W, Matsuzu K, Fukunari N, Ito K
World J Surg Oncol 2023 Feb 3;21(1):32. doi: 10.1186/s12957-023-02912-2. PMID: 36737774Free PMC Article
Sada A, Glasgow AE, Vella A, Thompson GB, McKenzie TJ, Habermann EB
World J Surg 2020 Jul;44(7):2288-2294. doi: 10.1007/s00268-020-05445-x. PMID: 32128613Free PMC Article
Searle SD, Mitnitski A, Gahbauer EA, Gill TM, Rockwood K
BMC Geriatr 2008 Sep 30;8:24. doi: 10.1186/1471-2318-8-24. PMID: 18826625Free PMC Article

Clinical prediction guides

Liang X, Gao X, Wang F, Li S, Zhou Y, Guo P, Meng Y, Lu T
Cancer Med 2023 Jul;12(13):14171-14182. Epub 2023 May 15 doi: 10.1002/cam4.6083. PMID: 37184108Free PMC Article
Holgersson J, Meyer MAS, Dankiewicz J, Lilja G, Ullén S, Hassager C, Cronberg T, Wise MP, Bělohlávek J, Hovdenes J, Pelosi P, Erlinge D, Schrag C, Smid O, Brunetti I, Rylander C, Young PJ, Saxena M, Åneman A, Cariou A, Callaway C, Eastwood GM, Haenggi M, Joannidis M, Keeble TR, Kirkegaard H, Leithner C, Levin H, Nichol AD, Morgan MPG, Nordberg P, Oddo M, Storm C, Taccone FS, Thomas M, Bro-Jeppesen J, Horn J, Kjaergaard J, Kuiper M, Pellis T, Stammet P, Wanscher MJ, Friberg H, Nielsen N, Jakobsen JC
NEJM Evid 2022 Nov;1(11):EVIDoa2200137. Epub 2022 Jun 15 doi: 10.1056/EVIDoa2200137. PMID: 38319850
Zhou TH, Zhao LQ, Zhang Y, Wu F, Lu KN, Mao LL, Jiang KC, Luo DC
Front Endocrinol (Lausanne) 2021;12:741289. Epub 2021 Nov 17 doi: 10.3389/fendo.2021.741289. PMID: 34867784Free PMC Article
Sada A, Glasgow AE, Vella A, Thompson GB, McKenzie TJ, Habermann EB
World J Surg 2020 Jul;44(7):2288-2294. doi: 10.1007/s00268-020-05445-x. PMID: 32128613Free PMC Article
Searle SD, Mitnitski A, Gahbauer EA, Gill TM, Rockwood K
BMC Geriatr 2008 Sep 30;8:24. doi: 10.1186/1471-2318-8-24. PMID: 18826625Free PMC Article

Recent systematic reviews

Dhrif O, Litaiem N, Lahmar W, Fatnassi F, Slouma M, Zeglaoui F
Arch Dermatol Res 2024 Jun 15;316(7):393. doi: 10.1007/s00403-024-02982-6. PMID: 38878198
Lopez-Villegas A, Leal-Costa C, Perez-Heredia M, Villegas-Tripiana I, Catalán-Matamoros D
Int J Environ Res Public Health 2021 Nov 18;18(22) doi: 10.3390/ijerph182212120. PMID: 34831876Free PMC Article
Mylona EE, Baraboutis IG, Papastamopoulos V, Tsagalou EP, Vryonis E, Samarkos M, Fanourgiakis P, Skoutelis A
Sex Transm Dis 2010 Mar;37(3):177-83. doi: 10.1097/OLQ.0b013e3181c0d51f. PMID: 20023597

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