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Abnormal labia majora morphology

MedGen UID:
868301
•Concept ID:
C4022695
•
Anatomical Abnormality
Synonym: Abnormality of the labia majora
 
HPO: HP:0012881

Definition

An anomaly of the outer labia. [from HPO]

Professional guidelines

PubMed

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Eur J Hum Genet 2012 Jun;20(6):598-606. Epub 2012 Feb 15 doi: 10.1038/ejhg.2011.269. PMID: 22333897Free PMC Article

Recent clinical studies

Etiology

Safety and effectiveness of percutaneous sclerotherapy for venous disorders of the labia majora in patients with vascular malformations.
Brill R, Deistung A, Gussew A, Goldann C, Stangl F, Uller W, Rosendahl J, Wildgruber M, Wohlgemuth WA
J Vasc Surg Venous Lymphat Disord 2020 Nov;8(6):1083-1089. Epub 2020 Mar 19 doi: 10.1016/j.jvsv.2020.01.008. PMID: 32199800
Meier-Gorlin syndrome.
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article
Prevalence of genital abnormalities in neonates.
Monlleó IL, Zanotti SV, Araújo BP, Cavalcante EF Jr, Pereira PD, Barros PM, Araújo MD, Mendonça AT, Santos CR, Santos YR, Michelatto Dde P, Mello MP, Maciel-Guerra AT, Guerra-Júnior G
J Pediatr (Rio J) 2012 Nov-Dec;88(6):489-95. doi: 10.2223/JPED.2237. PMID: 23269242
Protruding labia minora: abnormal or just uncool?
Michala L, Koliantzaki S, Antsaklis A
J Psychosom Obstet Gynaecol 2011 Sep;32(3):154-6. Epub 2011 Jun 23 doi: 10.3109/0167482X.2011.585726. PMID: 21696338
Construction of a neovagina for patients with a flat perineum.
Rock JA, Jones HW Jr
Am J Obstet Gynecol 1989 Apr;160(4):845-51; discussion 852-3. doi: 10.1016/0002-9378(89)90300-1. PMID: 2712117

Diagnosis

Laparoscopy Assisted Peritoneal Pull-Through Vaginoplasty in Transgender Women.
Castanon CDG, Matic S, Bizic M, Stojanovic B, Bencic M, Grubor N, Pusica S, Korac G, Djordjevic ML
Urology 2022 Aug;166:301-302. Epub 2022 May 10 doi: 10.1016/j.urology.2022.05.001. PMID: 35550383
Clitoral Length and Anogenital Ratio in Indian Newborn Girls.
Mondal R, Chatterjee K, Samanta M, Hazra A, Ray S, Sabui TK, Banerjee B, Das S, Roychowdhury D, Biswas R
Indian Pediatr 2016 Apr;53(4):299-303. doi: 10.1007/s13312-016-0840-1. PMID: 27156541
Meier-Gorlin syndrome.
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article
Labia majora labioplasty in HIV-related vaginal lipodystrophy: technique description and literature review.
Lapalorcia LM, Podda S, Campiglio G, Cordellini M
Aesthetic Plast Surg 2013 Aug;37(4):711-4. Epub 2013 Jun 15 doi: 10.1007/s00266-013-0159-4. PMID: 23771244
Mixed gonadal dysgenesis.
Zäh W, Kalderon AE, Tucci JR
Acta Endocrinol Suppl (Copenh) 1975;197:1-39. PMID: 1094776

Therapy

Safety and effectiveness of percutaneous sclerotherapy for venous disorders of the labia majora in patients with vascular malformations.
Brill R, Deistung A, Gussew A, Goldann C, Stangl F, Uller W, Rosendahl J, Wildgruber M, Wohlgemuth WA
J Vasc Surg Venous Lymphat Disord 2020 Nov;8(6):1083-1089. Epub 2020 Mar 19 doi: 10.1016/j.jvsv.2020.01.008. PMID: 32199800
Self-attempted labioplasty with elastic bands resulting in severe necrosis.
Farahani F, Gentry A, Lara-Torre E, McCuin E
J Low Genit Tract Dis 2015 Apr;19(2):e35-7. doi: 10.1097/LGT.0000000000000067. PMID: 25062401
Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?
Wonkam A, Extermann P, Birraux J, Fokstuen S
Congenit Anom (Kyoto) 2011 Jun;51(2):96-9. doi: 10.1111/j.1741-4520.2010.00291.x. PMID: 20727000
Perineal hemangioma, anorectal malformation, and genital anomaly: a new association?
Bouchard S, Yazbeck S, Lallier M
J Pediatr Surg 1999 Jul;34(7):1133-5. doi: 10.1016/s0022-3468(99)90584-5. PMID: 10442608
Prevention of accidental trauma to the iloinguinal nerve during inguinal hernoirrhaphy.
Moosman DA, Oelrich TM
Am J Surg 1977 Feb;133(2):146-8. doi: 10.1016/0002-9610(77)90068-x. PMID: 835786

Prognosis

A case of caudal regression syndrome: walking or sitting?
Bicakci I, Turgut ST, Turgut B, Icagasioglu A, Egilmez Z, Yumusakhuylu Y
Pan Afr Med J 2014;18:92. Epub 2014 May 26 doi: 10.11604/pamj.2014.18.92.3683. PMID: 25400859Free PMC Article
Labia majora labioplasty in HIV-related vaginal lipodystrophy: technique description and literature review.
Lapalorcia LM, Podda S, Campiglio G, Cordellini M
Aesthetic Plast Surg 2013 Aug;37(4):711-4. Epub 2013 Jun 15 doi: 10.1007/s00266-013-0159-4. PMID: 23771244
Two sisters resembling Gorlin-Chaudhry-Moss syndrome.
Aravena T, Passalacqua C, Pizarro O, Aracena M
Am J Med Genet A 2011 Oct;155A(10):2552-5. Epub 2011 Sep 9 doi: 10.1002/ajmg.a.34204. PMID: 21910232
Genitourinary anomalies in the CHARGE association.
Ragan DC, Casale AJ, Rink RC, Cain MP, Weaver DD
J Urol 1999 Feb;161(2):622-5. PMID: 9915472
Prevention of accidental trauma to the iloinguinal nerve during inguinal hernoirrhaphy.
Moosman DA, Oelrich TM
Am J Surg 1977 Feb;133(2):146-8. doi: 10.1016/0002-9610(77)90068-x. PMID: 835786

Clinical prediction guides

45 years' experience with early childhood anatomical technique of feminising genitoplasty for 46 XX Congenital Adrenal Hyperplasia -observations of vaginal introital anatomy and its relationship to the perineal body.
Hennayake S, Barnes A, Mariotto A, Goyal A, Ajao A, Cserni T, Busby G, Patel L, Skae M, Nicholson J, Bianchi A
J Pediatr Urol 2022 Oct;18(5):611.e1-611.e8. Epub 2022 Jul 19 doi: 10.1016/j.jpurol.2022.07.007. PMID: 35970739
Safety and effectiveness of percutaneous sclerotherapy for venous disorders of the labia majora in patients with vascular malformations.
Brill R, Deistung A, Gussew A, Goldann C, Stangl F, Uller W, Rosendahl J, Wildgruber M, Wohlgemuth WA
J Vasc Surg Venous Lymphat Disord 2020 Nov;8(6):1083-1089. Epub 2020 Mar 19 doi: 10.1016/j.jvsv.2020.01.008. PMID: 32199800
Spontaneous symmetrical giant keloids at the bilateral labia majora: a case report.
Zhang W, Wang X, Huang J, Dong W, Long X
J Int Med Res 2020 Apr;48(4):300060519891664. Epub 2019 Dec 19 doi: 10.1177/0300060519891664. PMID: 31856627Free PMC Article
Labia majora labioplasty in HIV-related vaginal lipodystrophy: technique description and literature review.
Lapalorcia LM, Podda S, Campiglio G, Cordellini M
Aesthetic Plast Surg 2013 Aug;37(4):711-4. Epub 2013 Jun 15 doi: 10.1007/s00266-013-0159-4. PMID: 23771244
Opitz trigonocephaly syndrome.
Haaf T, Hofmann R, Schmid M
Am J Med Genet 1991 Sep 15;40(4):444-6. doi: 10.1002/ajmg.1320400413. PMID: 1746609

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