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Abnormal male external genitalia morphology

MedGen UID:
871399
Concept ID:
C4025897
Anatomical Abnormality
Synonym: Abnormality of male external genitalia
 
HPO: HP:0000032

Definition

Any structural abnormality of male external genitalia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal male external genitalia morphology

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.
Spermatogenic failure, X-linked, 6
MedGen UID:
1840198
Concept ID:
C5829562
Disease or Syndrome
X-linked spermatogenic failure-6 (SPGFX6) is characterized by male infertility due to asthenoteratozoospermia. Patient spermatozoa show reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, primarily short and coiled flagella. Pregnancy can be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

Professional guidelines

PubMed

Mallmann MR, Gembruch U
Arch Gynecol Obstet 2022 Dec;306(6):1847-1862. Epub 2022 Feb 27 doi: 10.1007/s00404-022-06441-3. PMID: 35220478Free PMC Article
Avendaño A, Paradisi I, Cammarata-Scalisi F, Callea M
Hormones (Athens) 2018 Jun;17(2):197-204. Epub 2018 Apr 20 doi: 10.1007/s42000-018-0013-9. PMID: 29858846
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article

Recent clinical studies

Etiology

Svechnikov K, Stukenborg JB, Savchuck I, Söder O
Asian J Androl 2014 Jan-Feb;16(1):50-9. doi: 10.4103/1008-682X.122199. PMID: 24369133Free PMC Article
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article
Lajic S, Nordenström A, Hirvikoski T
Endocr Dev 2011;20:96-105. Epub 2010 Dec 16 doi: 10.1159/000321228. PMID: 21164263
Köhler B, Achermann JC
Minerva Endocrinol 2010 Jun;35(2):73-86. PMID: 20595937
Avellán L
Scand J Plast Reconstr Surg 1980;14(3):239-47. doi: 10.3109/02844318009106717. PMID: 7209410

Diagnosis

Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article
Lajic S, Nordenström A, Hirvikoski T
Endocr Dev 2011;20:96-105. Epub 2010 Dec 16 doi: 10.1159/000321228. PMID: 21164263
Köhler B, Achermann JC
Minerva Endocrinol 2010 Jun;35(2):73-86. PMID: 20595937
Morcel K, Camborieux L; Programme de Recherches sur les Aplasies Müllériennes, Guerrier D
Orphanet J Rare Dis 2007 Mar 14;2:13. doi: 10.1186/1750-1172-2-13. PMID: 17359527Free PMC Article
Zäh W, Kalderon AE, Tucci JR
Acta Endocrinol Suppl (Copenh) 1975;197:1-39. PMID: 1094776

Therapy

Bernabé KJ, Nokoff NJ, Galan D, Felsen D, Aston CE, Austin P, Baskin L, Chan YM, Cheng EY, Diamond DA, Ellens R, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Delozier AM, Mullins LL, Palmer B, Paradis A, Reddy P, Reyes KJS, Schulte M, Swartz JM, Yerkes E, Wolfe-Christensen C, Wisniewski AB, Poppas DP
J Pediatr Urol 2018 Apr;14(2):157.e1-157.e8. Epub 2018 Feb 2 doi: 10.1016/j.jpurol.2017.11.019. PMID: 29398588Free PMC Article
Thorup J, Cortes D
Eur J Pediatr Surg 2016 Oct;26(5):427-431. Epub 2016 Sep 2 doi: 10.1055/s-0036-1592138. PMID: 27589079
Svechnikov K, Stukenborg JB, Savchuck I, Söder O
Asian J Androl 2014 Jan-Feb;16(1):50-9. doi: 10.4103/1008-682X.122199. PMID: 24369133Free PMC Article
Lajic S, Nordenström A, Hirvikoski T
Endocr Dev 2011;20:96-105. Epub 2010 Dec 16 doi: 10.1159/000321228. PMID: 21164263
Bierich JR
Helv Paediatr Acta 1974;Suppl 34:87-97. PMID: 4616023

Prognosis

Štichhauer R, Šafus A, Neumann D, Novák I, Skutilová V, Laco J
Acta Medica (Hradec Kralove) 2021;64(1):42-45. doi: 10.14712/18059694.2021.7. PMID: 33855958
Wang L, Mei XL
Chin Med J (Engl) 2017 May 5;130(9):1062-1068. doi: 10.4103/0366-6999.204929. PMID: 28469101Free PMC Article
Brown J, Warne G
J Pediatr Endocrinol Metab 2005 Jan;18(1):3-23. doi: 10.1515/jpem.2005.18.1.3. PMID: 15679065
Avellán L
Scand J Plast Reconstr Surg 1980;14(3):239-47. doi: 10.3109/02844318009106717. PMID: 7209410
McCarthy GT, West CM
Dev Med Child Neurol 1977 Oct;19(5):659-63. doi: 10.1111/j.1469-8749.1977.tb07999.x. PMID: 913905

Clinical prediction guides

Bernabé KJ, Nokoff NJ, Galan D, Felsen D, Aston CE, Austin P, Baskin L, Chan YM, Cheng EY, Diamond DA, Ellens R, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Delozier AM, Mullins LL, Palmer B, Paradis A, Reddy P, Reyes KJS, Schulte M, Swartz JM, Yerkes E, Wolfe-Christensen C, Wisniewski AB, Poppas DP
J Pediatr Urol 2018 Apr;14(2):157.e1-157.e8. Epub 2018 Feb 2 doi: 10.1016/j.jpurol.2017.11.019. PMID: 29398588Free PMC Article
Mondal R, Ray S, Chatterjee K, Sabui TK, Hazra A, Das S, Chaudhuri J, Sil A, Samanta M
Indian J Pediatr 2016 Nov;83(12-13):1398-1404. Epub 2016 Jun 8 doi: 10.1007/s12098-016-2163-6. PMID: 27272047
Kalfa N, Cassorla F, Audran F, Oulad Abdennabi I, Philibert P, Béroud C, Guys JM, Reynaud R, Alessandrini P, Wagner K, Bréaud J, Valla JS, Morisson Lacombe G, Daures JP, Baskin L, Fukami M, Ogata T, Sultan C
J Pediatr Urol 2011 Dec;7(6):585-91. Epub 2011 Oct 24 doi: 10.1016/j.jpurol.2011.09.005. PMID: 22030455
Niaudet P, Gubler MC
Pediatr Nephrol 2006 Nov;21(11):1653-60. Epub 2006 Aug 23 doi: 10.1007/s00467-006-0208-1. PMID: 16927106
Avellán L
Scand J Plast Reconstr Surg 1980;14(3):239-47. doi: 10.3109/02844318009106717. PMID: 7209410

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