10 year old girl with primary amenorrhoea, absent breasts, malformed uterus. The most likely diagnosis:
Ans. is 'b' i.e. Turner's syndrome Swyer syndrome (Pure gonadal dysgenesis)Patients with pure gonadal dysgenesis have XY karyotype.In these cases primitive germ cells do not migrate to the genital ridge so testis will not develop instead, the patients have streak gonads.Normal testis secretes Mullerian inhibiting factor and Testosterone.Thus in these cases there is absence of mullerian inhibiting factor and Testosterone.So these patients have normal female internal and external genitaliaAbsence of MIF causes - Development of mullerian structures i.e. uterus, Fallopian tubeAbsence of testosterone stops the development of - wool lian duct structures i.e. seminal vesicle, prostateThese individuals are not able to produce any estrogen so they will not develop breast Mayor Rokitansky Kuster Hauser syndrome :This is also known as Mullerian agenesis syndrome.In these cases patient does not develop mullerian structures i.e. uterus, Fallopian tube and upper portion of vagina.The breast development is normal in these patients.Mixed Gonadal dysgenesisMixed gonadal dysgenesis is a type of asymmetrical gonadal dysgenesis (one side is more developed than the other).In most of the cases there is a unilateral testis usually intraabdominal and a streak gonad on the contralateral side. Functionally the gonads are incompetent i.e. theyFailed to completely inhibit mullerian developmentFailed to support full differentiation of mesonephric duct structuresFailed to adequately masculinize development of external genitaliaOften fail to mediate their own descent, resulting in asymmetry of internal and external genitalis.The mullerian structures are present since no anti mullerian hormones are produced.The patient has normal uterus usually B/L fallopian tubes.The external genitalia are always masculinized.The breast is not developed.Turner's syndromeIn Turner's syndrome the gonads are not properly developed (streak gonads)The ovary is not properly developed and it cannot secrete adequate amount of estrogen.This leads to lack of secondary sexual characteristic.Breast is not developed properly.Uterus is not developed properly in most of the patients who have not received estrogen therapy.The crux is:MRKSNo uterusNormal breastPrimary AmenorrhoeaPure Gonadal dysgenesisNormal uterusPrimary amenorrhoeaNo breastMixed Gonadal dysgenics* Normal uterus Primary amenorrhoeaNo breastTurners syndromeUnderdeveloped uterusUndeveloped breastPrimary amenorrhoea
MRKH syndrome
Turner's syndrome
Swyer syndrome
Mixed gonadal dysgenesis
Genital Differentiation