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Aplasia/Hypoplasia of the vagina

MedGen UID:
869165
•Concept ID:
C4023586
•
Finding
Synonyms: Absent/small vagina; Absent/underdeveloped vagina
 
HPO: HP:0011026

Definition

Aplasia or developmental hypoplasia of the vagina. [from HPO]

Recent clinical studies

Etiology

Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome.
Raziel A, Friedler S, Gidoni Y, Ben Ami I, Strassburger D, Ron-El R
Hum Reprod 2012 Jan;27(1):126-30. Epub 2011 Nov 3 doi: 10.1093/humrep/der356. PMID: 22052385

Diagnosis

Müllerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review.
AlSubaihin A, VanderMeulen J, Harris K, Duck J, McCready E
J Pediatr Adolesc Gynecol 2018 Apr;31(2):158-161. Epub 2017 Sep 14 doi: 10.1016/j.jpag.2017.09.004. PMID: 28919146
Inguinal ovary as a rare diagnostic sign of Mayer-Rokitansky-Küster-Hauser syndrome.
Demirel F, Kara O, Esen I
J Pediatr Endocrinol Metab 2012;25(3-4):383-6. doi: 10.1515/jpem-2011-0493. PMID: 22768675
Coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome and neurofibromatosis type I.
Yayli S, Bahadir S, Cimşit G, Bozkaya H, Imamoğlu HI, Kul S
Am J Clin Dermatol 2008;9(1):57-60. doi: 10.2165/00128071-200809010-00007. PMID: 18092845

Therapy

The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia.
Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC
J Pediatr 1979 Sep;95(3):399-402. doi: 10.1016/s0022-3476(79)80514-4. PMID: 469663

Prognosis

Inguinal ovary as a rare diagnostic sign of Mayer-Rokitansky-Küster-Hauser syndrome.
Demirel F, Kara O, Esen I
J Pediatr Endocrinol Metab 2012;25(3-4):383-6. doi: 10.1515/jpem-2011-0493. PMID: 22768675
Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome.
Raziel A, Friedler S, Gidoni Y, Ben Ami I, Strassburger D, Ron-El R
Hum Reprod 2012 Jan;27(1):126-30. Epub 2011 Nov 3 doi: 10.1093/humrep/der356. PMID: 22052385

Clinical prediction guides

Inguinal ovary as a rare diagnostic sign of Mayer-Rokitansky-Küster-Hauser syndrome.
Demirel F, Kara O, Esen I
J Pediatr Endocrinol Metab 2012;25(3-4):383-6. doi: 10.1515/jpem-2011-0493. PMID: 22768675

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