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Penile hypospadias

MedGen UID:
305577
Concept ID:
C1691215
Congenital Abnormality
Synonym: Hypospadias, penile
SNOMED CT: Urethral meatus underneath penis (204888000); Penile hypospadias (204888000)
 
HPO: HP:0003244

Definition

Location of the urethral opening on the inferior aspect of the penis. [from HPO]

Term Hierarchy

Conditions with this feature

Absent radius-anogenital anomalies syndrome
MedGen UID:
333312
Concept ID:
C1839410
Disease or Syndrome
A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.
X-linked myotubular myopathy-abnormal genitalia syndrome
MedGen UID:
335354
Concept ID:
C1846169
Disease or Syndrome
A rare chromosomal anomaly, partial deletion of the long arm of chromosome X, with characteristics of a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with a severe form of congenital myopathy and abnormal male genitalia.
Vici syndrome
MedGen UID:
340962
Concept ID:
C1855772
Disease or Syndrome
With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
MedGen UID:
1824008
Concept ID:
C5774235
Disease or Syndrome
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) is characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging (Reichert et al., 2020).

Professional guidelines

PubMed

Spinoit AF, Poelaert F, Van Praet C, Groen LA, Van Laecke E, Hoebeke P
J Pediatr Urol 2015 Apr;11(2):70.e1-6. Epub 2015 Feb 26 doi: 10.1016/j.jpurol.2014.11.014. PMID: 25797860

Recent clinical studies

Etiology

Faraj S, Loubersac T, Bouchot O, Heloury Y, Leclair MD
J Pediatr Urol 2022 Feb;18(1):4.e1-4.e8. Epub 2021 Nov 12 doi: 10.1016/j.jpurol.2021.11.001. PMID: 34863623
Badawy H, Soliman A, Moussa A, Youssef M, Fahmy A, Dawood W, Elmesiry M, Assem A, Elsayed S, Abulfotooh Eid A, Orabi S
J Pediatr Urol 2019 Apr;15(2):151.e1-151.e10. Epub 2019 Jan 18 doi: 10.1016/j.jpurol.2019.01.002. PMID: 30833176
Singh N, Gupta DK, Sharma S, Sahu DK, Mishra A, Yadav DK, Rawat J, Singh AK
Pediatr Surg Int 2018 Sep;34(9):991-1008. Epub 2018 Aug 4 doi: 10.1007/s00383-018-4330-5. PMID: 30078147
Kiss A, Sulya B, Szász AM, Romics I, Kelemen Z, Tóth J, Merksz M, Kemény S, Nyírády P
J Sex Med 2011 May;8(5):1529-39. Epub 2010 Nov 22 doi: 10.1111/j.1743-6109.2010.02120.x. PMID: 21091883
Utsch B, Albers N, Ludwig M
Eur J Pediatr Surg 2004 Oct;14(5):297-302. doi: 10.1055/s-2004-821275. PMID: 15543478

Diagnosis

Faraj S, Loubersac T, Bouchot O, Heloury Y, Leclair MD
J Pediatr Urol 2022 Feb;18(1):4.e1-4.e8. Epub 2021 Nov 12 doi: 10.1016/j.jpurol.2021.11.001. PMID: 34863623
Elmoghazy H, Hussein MM, Mohamed E, Badawy A, Alsagheer G, Abd Elhamed AM
Int Urol Nephrol 2016 Dec;48(12):1943-1949. Epub 2016 Sep 13 doi: 10.1007/s11255-016-1416-7. PMID: 27623810
Spinoit AF, Poelaert F, Groen LA, Van Laecke E, Hoebeke P
J Urol 2013 Jun;189(6):2276-81. Epub 2013 Jan 7 doi: 10.1016/j.juro.2012.12.100. PMID: 23306089
Parada-Bustamante A, Ríos R, Ebensperger M, Lardone MC, Piottante A, Castro A
Fertil Steril 2010 Nov;94(6):2330.e13-6. Epub 2010 May 7 doi: 10.1016/j.fertnstert.2010.03.066. PMID: 20451191
Aschim EL, Nordenskjöld A, Giwercman A, Lundin KB, Ruhayel Y, Haugen TB, Grotmol T, Giwercman YL
J Clin Endocrinol Metab 2004 Oct;89(10):5105-9. doi: 10.1210/jc.2004-0293. PMID: 15472213

Therapy

Daboos M, Hefney K, Abdelhafez Mahmoud M, Salama A, Mohammed Y, Hussein M, Abdelmaboud M, Hussein T, Ashour Y, Gouda S
Int Urol Nephrol 2022 Jul;54(7):1471-1477. Epub 2022 Apr 24 doi: 10.1007/s11255-022-03217-1. PMID: 35462581Free PMC Article
Faraj S, Loubersac T, Bouchot O, Heloury Y, Leclair MD
J Pediatr Urol 2022 Feb;18(1):4.e1-4.e8. Epub 2021 Nov 12 doi: 10.1016/j.jpurol.2021.11.001. PMID: 34863623
Honkisz I, Sulisławski J, Dobrowolska-Glazar B, Kuijper CF, Chrzan R
Adv Clin Exp Med 2020 Dec;29(12):1487-1490. doi: 10.17219/acem/127677. PMID: 33389839
Göllü Bahadır G, Ergün E, Telli O, Khanmammadov F, Çakmak AM
Turk J Med Sci 2016 Dec 20;46(6):1624-1628. doi: 10.3906/sag-1507-72. PMID: 28081317
Parada-Bustamante A, Ríos R, Ebensperger M, Lardone MC, Piottante A, Castro A
Fertil Steril 2010 Nov;94(6):2330.e13-6. Epub 2010 May 7 doi: 10.1016/j.fertnstert.2010.03.066. PMID: 20451191

Prognosis

Faraj S, Loubersac T, Bouchot O, Heloury Y, Leclair MD
J Pediatr Urol 2022 Feb;18(1):4.e1-4.e8. Epub 2021 Nov 12 doi: 10.1016/j.jpurol.2021.11.001. PMID: 34863623
Honkisz I, Sulisławski J, Dobrowolska-Glazar B, Kuijper CF, Chrzan R
Adv Clin Exp Med 2020 Dec;29(12):1487-1490. doi: 10.17219/acem/127677. PMID: 33389839
Hirsch K, Schwaiger B, Kraske S, Wullich B
J Pediatr Urol 2019 Aug;15(4):401.e1-401.e6. Epub 2019 May 25 doi: 10.1016/j.jpurol.2019.05.018. PMID: 31301977
Jawale SA, Jesudian G, Nehete R
Trop Doct 2019 Jan;49(1):65-67. Epub 2018 Nov 4 doi: 10.1177/0049475518807315. PMID: 30394855
El dahshoury ZM, Gamal W, Hammady A, Hussein M, Salem E
J Pediatr Urol 2013 Dec;9(6 Pt A):745-9. Epub 2013 Apr 15 doi: 10.1016/j.jpurol.2013.03.005. PMID: 23597631

Clinical prediction guides

Akan AB, Mondal SK, Bari MS, Mahammad N, Munmun UH, Islam MS
Mymensingh Med J 2022 Oct;31(4):1179-1182. PMID: 36189569
Omran MA, Sakr AM, Elgalaly H, El-Kady EH, Abdalla MMH
J Pediatr Urol 2022 Apr;18(2):179.e1-179.e7. Epub 2022 Jan 31 doi: 10.1016/j.jpurol.2022.01.013. PMID: 35184945
Faraj S, Loubersac T, Bouchot O, Heloury Y, Leclair MD
J Pediatr Urol 2022 Feb;18(1):4.e1-4.e8. Epub 2021 Nov 12 doi: 10.1016/j.jpurol.2021.11.001. PMID: 34863623
Galal M, Taha DE, Elabden KZ, Nabeeh H, Abdelbaky T
Urol J 2021 Nov 4;19(1):50-55. doi: 10.22037/uj.v18i.6618. PMID: 34739727
Shoor G, Sugandhi N, Acharya SK, Chakraborty G, Teckchandani N, Dixit A, Kour H, Bagga D
J Pediatr Urol 2020 Jun;16(3):319.e1-319.e7. Epub 2020 Apr 21 doi: 10.1016/j.jpurol.2020.04.014. PMID: 32376290

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