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Abnormal external genitalia morphology

MedGen UID:
871335
•Concept ID:
C4025825
•
Anatomical Abnormality
Synonym: Abnormal external genitalia
 
HPO: HP:0000811

Definition

A structural anomaly of the external genitalia. [from HPO]

Professional guidelines

PubMed

Clinical spectrum of female genital malformations in prenatal diagnosis.
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
5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.
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
Micropenis: etiology, diagnosis and treatment approaches.
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

Clinical spectrum of female genital malformations in prenatal diagnosis.
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
Management of Vaginal Cancer.
Shrivastava SB, Agrawal G, Mittal M, Mishra P
Rev Recent Clin Trials 2015;10(4):289-97. doi: 10.2174/1574887110666150923112958. PMID: 26411952
Micropenis: etiology, diagnosis and treatment approaches.
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article
Female epispadias.
Shetty MV, Bhaskaran A, Sen TK
Afr J Paediatr Surg 2011 May-Aug;8(2):215-7. doi: 10.4103/0189-6725.86066. PMID: 22005369
Pudendal neuralgia.
Turner ML, Marinoff SC
Am J Obstet Gynecol 1991 Oct;165(4 Pt 2):1233-6. doi: 10.1016/s0002-9378(12)90733-4. PMID: 1951579

Diagnosis

Abnormalities of the external genitalia.
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
Micropenis: etiology, diagnosis and treatment approaches.
Hatipoğlu N, Kurtoğlu S
J Clin Res Pediatr Endocrinol 2013;5(4):217-23. doi: 10.4274/Jcrpe.1135. PMID: 24379029Free PMC Article
Female epispadias.
Shetty MV, Bhaskaran A, Sen TK
Afr J Paediatr Surg 2011 May-Aug;8(2):215-7. doi: 10.4103/0189-6725.86066. PMID: 22005369
Hypertrophic labia minora.
Reddy J, Laufer MR
J Pediatr Adolesc Gynecol 2010 Feb;23(1):3-6. Epub 2009 Jul 15 doi: 10.1016/j.jpag.2009.01.071. PMID: 19608442
Pudendal neuralgia.
Turner ML, Marinoff SC
Am J Obstet Gynecol 1991 Oct;165(4 Pt 2):1233-6. doi: 10.1016/s0002-9378(12)90733-4. PMID: 1951579

Therapy

Epidermolytic hyperkeratosis of the vulva.
Dai C, Sokumbi O, Bruce A, Thielen JM, Sluzevich JC
Dermatol Online J 2021 Jan 15;27(1) PMID: 33560797
46,XY DSD due to impaired androgen production.
Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S
Best Pract Res Clin Endocrinol Metab 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. PMID: 20541150
CHARGE syndrome.
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article
Syndromes and genital dysmorphology.
Aarskog D
Horm Res 1992;38 Suppl 2:82-5. doi: 10.1159/000182606. PMID: 1292988
Pudendal neuralgia.
Turner ML, Marinoff SC
Am J Obstet Gynecol 1991 Oct;165(4 Pt 2):1233-6. doi: 10.1016/s0002-9378(12)90733-4. PMID: 1951579

Prognosis

Management of Vaginal Cancer.
Shrivastava SB, Agrawal G, Mittal M, Mishra P
Rev Recent Clin Trials 2015;10(4):289-97. doi: 10.2174/1574887110666150923112958. PMID: 26411952
Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.
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
Abnormalities of the external genitalia.
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
Female epispadias.
Shetty MV, Bhaskaran A, Sen TK
Afr J Paediatr Surg 2011 May-Aug;8(2):215-7. doi: 10.4103/0189-6725.86066. PMID: 22005369
Ablepheron macrostomia syndrome.
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

The External Genitalia Score (EGS): A European Multicenter Validation Study.
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
Annular hymenotomy for imperforate hymen.
Cetin C, Soysal C, Khatib G, Urunsak IF, Cetin T
J Obstet Gynaecol Res 2016 Aug;42(8):1013-5. Epub 2016 Apr 20 doi: 10.1111/jog.13010. PMID: 27094100
Bullous acrodermatitis enteropathica: case report of a unique clinical presentation and review of the literature.
Iyengar S, Chambers C, Sharon VR
Dermatol Online J 2015 Apr 16;21(4) PMID: 25933075
Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization.
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
PELVIS Syndrome.
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

Recent systematic reviews

Anatomical Variations of the External Genitalia in Posterior Cloaca: Clinical Consequences of Misdiagnosis-A Systematic Review of the Literature and the ARM-Net Consortium Experience.
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
The Thessaloniki ESHRE/ESGE consensus on diagnosis of female genital anomalies.
Grimbizis GF, Di Spiezio Sardo A, Saravelos SH, Gordts S, Exacoustos C, Van Schoubroeck D, Bermejo C, Amso NN, Nargund G, Timmerman D, Athanasiadis A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Tarlatzis B, Farquharson R, Gianaroli L, Campo R
Hum Reprod 2016 Jan;31(1):2-7. Epub 2015 Nov 4 doi: 10.1093/humrep/dev264. PMID: 26537921
Non-obstructive müllerian anomalies.
Dietrich JE, Millar DM, Quint EH
J Pediatr Adolesc Gynecol 2014 Dec;27(6):386-95. Epub 2014 Jul 17 doi: 10.1016/j.jpag.2014.07.001. PMID: 25438707
Surgical interventions for high-grade vulval intraepithelial neoplasia.
Kaushik S, Pepas L, Nordin A, Bryant A, Dickinson HO
Cochrane Database Syst Rev 2014 Mar 4;2014(3):CD007928. doi: 10.1002/14651858.CD007928.pub3. PMID: 24596022Free PMC Article
Surgical interventions for high grade vulval intraepithelial neoplasia.
Kaushik S, Pepas L, Nordin A, Bryant A, Dickinson HO
Cochrane Database Syst Rev 2011 Jan 19;(1):CD007928. doi: 10.1002/14651858.CD007928.pub2. PMID: 21249698Free PMC Article

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