Primary amenorrhea, absent uterus, normal pubic hair. Diagnosisis –
Correct Answer: Mullerian agenesis
Description: Ans. is 'a' i.e., Mullerian agenesis o MRKH syndrome is also known as MURCS syndrome (Mullerian agenesis, Renal aplasia and cervicothoracic somite dysplasia).o MRKH (Mayer Rokitansky Kuster Hauser) syndrome has a karyotype of 46, XX. So the gonads present are ovaries in contrast to Androgen Insensitivity Syndrome where testes are presento Vagina in its upper 2/3rds is absent, but lower one - third of vagina is present as it develops from the urogenital sinus.Characteristic findingsMRKH/ MURCSIsolated vaginal atresiaWNT 4 syndromeAndrogen insensitivityUpper vaginaAbsentVariableAbsentAbsentUterusAbsentPresentAbsentAbsentGonadsOvaryOvaryMasculinized ovaryTestisBreast developmentNormalNormalNormalNormalPubic hair developmentNormalNormalNormalSparseHyperandrogenismNoNoYesNoKaryotype46, XX46, XX46, XX46,XY
Category:
Gynaecology & Obstetrics
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