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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

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
Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD
J Steroid Biochem Mol Biol 2016 Oct;163:206-11. Epub 2016 May 22 doi: 10.1016/j.jsbmb.2016.05.020. PMID: 27224879
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article
Girard C, Bigorre M, Guillot B, Bessis D
Arch Dermatol 2006 Jul;142(7):884-8. doi: 10.1001/archderm.142.7.884. PMID: 16847205
Avellán L
Scand J Plast Reconstr Surg 1980;14(3):239-47. doi: 10.3109/02844318009106717. PMID: 7209410

Diagnosis

van der Straaten S, Springer A, Zecic A, Hebenstreit D, Tonnhofer U, Gawlik A, Baumert M, Szeliga K, Debulpaep S, Desloovere A, Tack L, Smets K, Wasniewska M, Corica D, Calafiore M, Ljubicic ML, Busch AS, Juul A, Nordenström A, Sigurdsson J, Flück CE, Haamberg T, Graf S, Hannema SE, Wolffenbuttel KP, Hiort O, Ahmed SF, Cools M
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz142. PMID: 31665438
Baldinger L, Mudegowdar A, Shukla AR
Clin Perinatol 2014 Sep;41(3):709-24. Epub 2014 Jul 23 doi: 10.1016/j.clp.2014.05.016. PMID: 25155737
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article
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

Adekanye AO, Adefemi SA, Onawola KA, James JA, Adeleke IT, Francis M, Sheshi EU, Atakere ME, Jibril AD
Afr Health Sci 2017 Dec;17(4):1120-1125. doi: 10.4314/ahs.v17i4.20. PMID: 29937883Free 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
Lajic S, Nordenström A, Hirvikoski T
Endocr Dev 2011;20:96-105. Epub 2010 Dec 16 doi: 10.1159/000321228. PMID: 21164263
Svechnikov K, Izzo G, Landreh L, Weisser J, Söder O
J Biomed Biotechnol 2010;2010 Epub 2010 Aug 25 doi: 10.1155/2010/684504. PMID: 20862379Free PMC Article
Aarskog D
Horm Res 1992;38 Suppl 2:82-5. doi: 10.1159/000182606. PMID: 1292988

Prognosis

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
Ezaki J, Hashimoto K, Asano T, Kanda S, Akioka Y, Hattori M, Yamamoto T, Shibata N
Cancer Prev Res (Phila) 2015 Apr;8(4):271-6. Epub 2015 Jan 26 doi: 10.1158/1940-6207.CAPR-14-0415. PMID: 25623218
Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M
Pediatr Dev Pathol 2015 Jul-Aug;18(4):279-96. Epub 2014 Aug 8 doi: 10.2350/14-04-1465-PB.1. PMID: 25105706
Baldinger L, Mudegowdar A, Shukla AR
Clin Perinatol 2014 Sep;41(3):709-24. Epub 2014 Jul 23 doi: 10.1016/j.clp.2014.05.016. PMID: 25155737
Avellán L
Scand J Plast Reconstr Surg 1980;14(3):239-47. doi: 10.3109/02844318009106717. PMID: 7209410

Clinical prediction guides

van der Straaten S, Springer A, Zecic A, Hebenstreit D, Tonnhofer U, Gawlik A, Baumert M, Szeliga K, Debulpaep S, Desloovere A, Tack L, Smets K, Wasniewska M, Corica D, Calafiore M, Ljubicic ML, Busch AS, Juul A, Nordenström A, Sigurdsson J, Flück CE, Haamberg T, Graf S, Hannema SE, Wolffenbuttel KP, Hiort O, Ahmed SF, Cools M
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz142. PMID: 31665438
Matsushita S, Suzuki K, Murashima A, Kajioka D, Acebedo AR, Miyagawa S, Haraguchi R, Ogino Y, Yamada G
Nat Rev Urol 2018 Jun;15(6):358-368. doi: 10.1038/s41585-018-0008-y. PMID: 29670181
Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M
Pediatr Dev Pathol 2015 Jul-Aug;18(4):279-96. Epub 2014 Aug 8 doi: 10.2350/14-04-1465-PB.1. PMID: 25105706
Girard C, Bigorre M, Guillot B, Bessis D
Arch Dermatol 2006 Jul;142(7):884-8. doi: 10.1001/archderm.142.7.884. PMID: 16847205
Avellán L
Scand J Plast Reconstr Surg 1980;14(3):239-47. doi: 10.3109/02844318009106717. PMID: 7209410

Recent systematic reviews

Carvalho C, Morandi A, Samuk I, Gine C, Gorter R, Martinez-Urrutia MJ, Vilanova-Sánchez A
Eur J Pediatr Surg 2024 Dec;34(6):482-487. Epub 2024 Jan 12 doi: 10.1055/a-2244-4551. PMID: 38216143

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