MULLERIAN APLASIA
Victor A. McKusick, OMIM, Johns Hopkins University, November 4, 1999
[for Professionals mainly]
Shokeir (1978) described 28 unrelated females, aged 15 to 28, with aplasia of the mullerian duct derivatives. Their complaints were amenorrhea and difficulty or pain on attempting sexual intercourse; absence of the vagina and failure to palpate the uterus rectally were features in all ... The pedigree pattern was consistent with female - limited autosomal dominant inheritance. The disorder was transmitted through normal males. See vagina, absence of ( Rokitansky - Kuster - Hauser syndrome; 277000 ) ...

Vagina, Absence of
Victor A. McKusick, OMIM, Johns Hopkins University, August 3, 2006
VAGINAL ATRESIA ROKITANSKI - KUSTER - HAUSER SYNDROME; RKH SYNDROME; VON MAYER - ROKITANSKY - KUSTER ANOMALY; MRK ANOMALY; UTERUS BIPARTITUS SOLIDUR RUDIMENTARIUS COM VAGINA SOLIDA;
In addition to congenital absence of the vagina, are normal female secondary sexual characteristics, rudimentary uterus in the form of bilateral and noncanaliculated muscular buds, normal tubes and ovaries and normal endocrine and cytogenetic evaluations ...

Mayer - Rokitansky Syndrome
Suzanne M Carter, MS, et al., EMedicine, February 20, 2007
Mayer- Rokitansky syndrome (MRS) is composed of vaginal altresia with other variable müllerian duct abnormalities ... Its presence usually remains undetected until the patient presents with primary amenorrhea despite normal sexual female development ... this condition has psychologically devastating consequences, its physiological defects are amenable to surgery ... The degree of vaginal aplasia ranges from complete absence to a blind pouch ... Absence or ectopia of the kidneys is common. Diagnosis leads to the discovery of renal anomalies ... These are skeletal findings that generally do not have clinical significance ... The actual cause of MRS is unknown ... DIFFERENTIALS ... Androgen Insensitivity Syndrome Turner Syndrome Other Problems to be Considered: Müllerian aplasia ...

Pelvic Factor Infertility: Vaginal Abnormalities
Eric Daiter, M.D., Edison, NJ
Vaginal abnormalities that result in infertility are not common but are important to recognize ... There are a variety of congenital defects of the female external genitalia ... fusion of the libia ... clitoral enlargement ... imperforate hymen ... transverse vaginal septum ... vaginal agenesis ... known as the "Rokitansky - Kuster - Hauser - Mayer" ... uncommon but is the second leading cause of primary amenorrhea (ovarian dysgenesis is the leading cause) and ...

Mayer - Rokitansky - Kustur - Syndrome
Listserve...

Una guía básica para evaluar la amenorrea
Dra. Marisa Geller
[Spanish]
Diagnóstico para la amenorrea ... muchas causas posibles ... diagnósticos diferenciales para la amenorrea primaria incluyen muchas entidades raramente vistas pro los tocoginecólogos ... Este artículo presenta un enfoque práctico del ... ... Falla gonadal ( 43 % ) Ausencia congénita del útero y la vagina ( 15 % ) Constitucional ( 14 % ) ... la evaluación de la amenorrea comienza por establecer la presencia o ausencia de vagina ... Agenesia congénita uterovaginal Sindrome completo de desesensibilización a los andrógenos (CAIS) Himen imperforado Septum. Trasverso completo de vagina ... Agenesia Congénita Uterovaginal Vagina, ausente Utero, ausente ... 46,XX Sindrome Completo de densensibilización androgénica ... testículos ... 46,XY ...

ERVARINGEN VAN VROUWEN MET HET SYNDROOM VAN MAYER - ROKITANSKY - KÜSTER
Netherlands Tijdschrift voor Obstetrie & Gynaecologie, Vol 112, Februari 1999 Ph. Th. M. Weijenborg, Leids Universitair Medisch Centrum
[for Professionals mainly] [Dutch]

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Last Updated: 2008/1/24

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