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Scrotal hypospadias

MedGen UID:
786371
Concept ID:
C2197691
Congenital Abnormality; Finding
SNOMED CT: Scrotal hypospadias (702462000)
 
HPO: HP:0012853

Definition

Hypospadias with location of the urethral meatus in the scrotum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVScrotal hypospadias

Conditions with this feature

3 beta-Hydroxysteroid dehydrogenase deficiency
MedGen UID:
452446
Concept ID:
C0342471
Disease or Syndrome
Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).
Methemoglobinemia type 4
MedGen UID:
925090
Concept ID:
C4285231
Disease or Syndrome
Methemoglobinemia and ambiguous genitalia (METAG) is due to isolated 17,20-lyase deficiency, defined by apparently normal 17-alpha-hydroxylase activity but severely reduced 17,20-lyase activity of the CYP17A1 enzyme (609300), which results in sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve. The clinical phenotype is characterized by male undermasculinization, with absent or disturbed pubertal development in both 46,XY and 46,XX individuals. Mild to severe methemoglobinemia has been reported in these patients (Idkowiak et al., 2012). Other autosomal recessive methemoglobinemias include types I and II (see 250800), caused by mutation in the CYB5R3 gene (613213). Isolated 17,20-lyase deficiency can also be caused by mutation in the CYP17A1 gene (609300), and mutation in the POR gene can manifest clinically as isolated 17,20-lyase deficiency (see 124015.0016).

Professional guidelines

PubMed

Nordenskjöld A, Holmdahl G
Eur J Pediatr Surg 2021 Dec;31(6):492-496. Epub 2021 Dec 15 doi: 10.1055/s-0041-1740339. PMID: 34911131
Li K, Zhang X, Yan G, Zheng W, Zou Y
J Magn Reson Imaging 2021 Jun;53(6):1862-1870. Epub 2021 Feb 19 doi: 10.1002/jmri.27519. PMID: 33608950
Khatwa UA, Menon PS
Indian J Pediatr 2000 Jun;67(6):449-54. doi: 10.1007/BF02859466. PMID: 10932966

Recent clinical studies

Etiology

Daboos M, Helal AA, Salama A
J Pediatr Urol 2020 Oct;16(5):673.e1-673.e7. Epub 2020 Aug 3 doi: 10.1016/j.jpurol.2020.07.037. PMID: 32800482
Djordjevic M, Simsek A, Bizic M, Stojanovic B, Martins F, Roth J, Purohit R
Urology 2020 Mar;137:205. Epub 2019 Dec 27 doi: 10.1016/j.urology.2019.12.016. PMID: 31883880
Akcan N, Poyrazoğlu Ş, Baş F, Bundak R, Darendeliler F
J Clin Res Pediatr Endocrinol 2018 Jun 1;10(2):100-107. Epub 2017 Oct 12 doi: 10.4274/jcrpe.5121. PMID: 29022558Free PMC Article
Aulagne MB, Harper L, de Napoli-Cocci S, Bondonny JM, Dobremez E
J Pediatr Urol 2010 Oct;6(5):469-72. Epub 2010 Jan 6 doi: 10.1016/j.jpurol.2009.12.005. PMID: 20053585
Snodgrass WT, Lorenzo A
BJU Int 2002 Jan;89(1):90-3. PMID: 11849169

Diagnosis

M Hassan M, M Atrushi A
Cell Mol Biol (Noisy-le-grand) 2023 Dec 10;69(13):65-69. doi: 10.14715/cmb/2023.69.13.10. PMID: 38158687
Martinez de Lapiscina I, Kouri C, Aurrekoetxea J, Sanchez M, Naamneh Elzenaty R, Sauter KS, Camats N, Grau G, Rica I, Rodriguez A, Vela A, Cortazar A, Alonso-Cerezo MC, Bahillo P, Bertholt L, Esteva I, Castaño L, Flück CE
PLoS One 2023;18(7):e0287515. Epub 2023 Jul 11 doi: 10.1371/journal.pone.0287515. PMID: 37432935Free PMC Article
Akramov NR, Shavaliev RF, Osipova IV
Medicine (Baltimore) 2021 May 14;100(19):e25864. doi: 10.1097/MD.0000000000025864. PMID: 34106634Free PMC Article
Akcan N, Poyrazoğlu Ş, Baş F, Bundak R, Darendeliler F
J Clin Res Pediatr Endocrinol 2018 Jun 1;10(2):100-107. Epub 2017 Oct 12 doi: 10.4274/jcrpe.5121. PMID: 29022558Free PMC Article
Finsterer J, Soraru G
J Mol Neurosci 2016 Mar;58(3):321-9. Epub 2015 Oct 19 doi: 10.1007/s12031-015-0663-x. PMID: 26482145

Therapy

Daboos M, Helal AA, Salama A
J Pediatr Urol 2020 Oct;16(5):673.e1-673.e7. Epub 2020 Aug 3 doi: 10.1016/j.jpurol.2020.07.037. PMID: 32800482
Faure A, Haddad M, Hery G, Merrot T, Guys JM
J Pediatr Urol 2018 Oct;14(5):476-482. Epub 2018 Aug 25 doi: 10.1016/j.jpurol.2018.06.014. PMID: 30154047
Bhangoo A, Paris F, Philibert P, Audran F, Ten S, Sultan C
Asian J Androl 2010 Jul;12(4):561-6. Epub 2010 Mar 22 doi: 10.1038/aja.2010.6. PMID: 20305676Free PMC Article
Kirsch AJ, de Vries GM, Chang DT, Olsson CA, Connor JP, Hensle TW
Urology 1996 Oct;48(4):616-23. doi: 10.1016/S0090-4295(96)00243-9. PMID: 8886070

Prognosis

Aulagne MB, Harper L, de Napoli-Cocci S, Bondonny JM, Dobremez E
J Pediatr Urol 2010 Oct;6(5):469-72. Epub 2010 Jan 6 doi: 10.1016/j.jpurol.2009.12.005. PMID: 20053585
Djordjevic ML, Majstorovic M, Stanojevic D, Bizic M, Kojovic V, Vukadinovic V, Korac G, Krstic Z, Perovic SV
Urology 2008 May;71(5):821-5. Epub 2008 Mar 12 doi: 10.1016/j.urology.2007.12.004. PMID: 18336884
Meizner I, Mashiach R, Shalev J, Efrat Z, Feldberg D
Ultrasound Obstet Gynecol 2002 Mar;19(3):250-3. doi: 10.1046/j.1469-0705.2002.00648.x. PMID: 11896945
Snodgrass WT, Lorenzo A
BJU Int 2002 Jan;89(1):90-3. PMID: 11849169
Kirsch AJ, de Vries GM, Chang DT, Olsson CA, Connor JP, Hensle TW
Urology 1996 Oct;48(4):616-23. doi: 10.1016/S0090-4295(96)00243-9. PMID: 8886070

Clinical prediction guides

Martinez de Lapiscina I, Kouri C, Aurrekoetxea J, Sanchez M, Naamneh Elzenaty R, Sauter KS, Camats N, Grau G, Rica I, Rodriguez A, Vela A, Cortazar A, Alonso-Cerezo MC, Bahillo P, Bertholt L, Esteva I, Castaño L, Flück CE
PLoS One 2023;18(7):e0287515. Epub 2023 Jul 11 doi: 10.1371/journal.pone.0287515. PMID: 37432935Free PMC Article
Wei J, Liu C, Zhang M, Liu S, Fu J, Lin P
BMC Med Genomics 2022 Sep 5;15(1):188. doi: 10.1186/s12920-022-01347-0. PMID: 36064700Free PMC Article
Faure A, Haddad M, Hery G, Merrot T, Guys JM
J Pediatr Urol 2018 Oct;14(5):476-482. Epub 2018 Aug 25 doi: 10.1016/j.jpurol.2018.06.014. PMID: 30154047
Haid B, Becker T, Koen M, Berger C, Strasser C, Roesch J, Zniva C, Oswald J
J Pediatr Urol 2016 Feb;12(1):33.e1-7. Epub 2015 Dec 12 doi: 10.1016/j.jpurol.2015.10.010. PMID: 26725130
Mokhless IA, Kader MA, Fahmy N, Youssef M
J Urol 2007 Apr;177(4):1496-9; discussion 1499-500. doi: 10.1016/j.juro.2006.11.079. PMID: 17382762

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