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Blind vagina

MedGen UID:
376302
Concept ID:
C1848182
Congenital Abnormality
Synonym: Blind-ending vagina
 
HPO: HP:0040314

Definition

The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. [from HPO]

Conditions with this feature

Androgen resistance syndrome
MedGen UID:
21102
Concept ID:
C0039585
Disease or Syndrome
Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.
Meacham syndrome
MedGen UID:
373234
Concept ID:
C1837026
Disease or Syndrome
WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.

Professional guidelines

PubMed

Lanciotti L, Cofini M, Leonardi A, Bertozzi M, Penta L, Esposito S
Int J Environ Res Public Health 2019 Apr 9;16(7) doi: 10.3390/ijerph16071268. PMID: 30970592Free PMC Article
Acién P, Acién M
Hum Reprod Update 2016 Jan-Feb;22(1):48-69. Epub 2015 Nov 3 doi: 10.1093/humupd/dmv048. PMID: 26537987
Nguyen QD, Foster CS
Int Ophthalmol Clin 1996 Winter;36(1):41-60. doi: 10.1097/00004397-199603610-00007. PMID: 8778068

Recent clinical studies

Etiology

Goulis DG, Iliadou PK, Papanicolaou A, Georgiou I, Chatzikyriakidou A, Gerou S, Bondis IN, Papadimas I
Hormones (Athens) 2006 Jul-Sep;5(3):200-4. doi: 10.14310/horm.2002.11185. PMID: 16950754

Diagnosis

Liu S, Wang Z, Jiang J, OuYang H, Wei S, Liang J, Chen N, Zeng W, Chen L, Xie X
Steroids 2019 Apr;144:47-51. Epub 2019 Feb 8 doi: 10.1016/j.steroids.2019.02.007. PMID: 30742848
Güdücü N, Gönenç G, Işçi H, Yiğiter AB, Dünder I
J Pediatr Adolesc Gynecol 2012 Oct;25(5):e111-2. Epub 2012 Jul 27 doi: 10.1016/j.jpag.2012.05.013. PMID: 22841374
Lee CS, Lie AT
Reprod Biomed Online 2012 May;24(5):547-9. Epub 2012 Jan 31 doi: 10.1016/j.rbmo.2012.01.021. PMID: 22410277
Altintaş A
J Pediatr Adolesc Gynecol 1998 Feb;11(1):25-7. doi: 10.1016/s1083-3188(98)70103-2. PMID: 9526822
Acien P, Garcia-Lopez F, Ferrando J, Chehab HE
Int J Gynaecol Obstet 1990 Feb;31(2):179-85. doi: 10.1016/0020-7292(90)90719-2. PMID: 1968868

Therapy

Sethi P, Mohanty GS, Kumari S
BMJ Case Rep 2021 Feb 23;14(2) doi: 10.1136/bcr-2020-238427. PMID: 33622745Free PMC Article
El Saman AM, Ismael AM, Zakherah MS, Nasr A, Tawfik RM, Bedaiwy MA
Fertil Steril 2011 Feb;95(2):779-82. Epub 2010 Nov 5 doi: 10.1016/j.fertnstert.2010.10.008. PMID: 21055746
El Saman AM, Fathalla MM, Nasr AM, Youssef MA
Int J Gynaecol Obstet 2007 Aug;98(2):134-7. Epub 2007 Jun 18 doi: 10.1016/j.ijgo.2007.04.013. PMID: 17572428

Prognosis

Altintaş A
J Pediatr Adolesc Gynecol 1998 Feb;11(1):25-7. doi: 10.1016/s1083-3188(98)70103-2. PMID: 9526822

Clinical prediction guides

Liu S, Wang Z, Jiang J, OuYang H, Wei S, Liang J, Chen N, Zeng W, Chen L, Xie X
Steroids 2019 Apr;144:47-51. Epub 2019 Feb 8 doi: 10.1016/j.steroids.2019.02.007. PMID: 30742848
El Saman AM, Ismael AM, Zakherah MS, Nasr A, Tawfik RM, Bedaiwy MA
Fertil Steril 2011 Feb;95(2):779-82. Epub 2010 Nov 5 doi: 10.1016/j.fertnstert.2010.10.008. PMID: 21055746
El Saman AM, Fathalla MM, Nasr AM, Youssef MA
Int J Gynaecol Obstet 2007 Aug;98(2):134-7. Epub 2007 Jun 18 doi: 10.1016/j.ijgo.2007.04.013. PMID: 17572428
Temoçin AK, Yüksel B, Tuncer R, Ozer G, Zorludemir U
Acta Paediatr Jpn 1997 Oct;39(5):631-3. doi: 10.1111/j.1442-200x.1997.tb03656.x. PMID: 9363668
Acién P
Hum Reprod 1992 Apr;7(4):437-45. doi: 10.1093/oxfordjournals.humrep.a137666. PMID: 1522183

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