<prompt> Normal functioning ovaries are seen in which of the following condition?Rokitansky-Kuster-Hauser syndromeTurner syndromeSawyer syndromeAdnrogen insensitivity syndrome  <response>: Ans. a. Rokitansky-Kuster-Hauser syndrome Ref: Shows Gynecology-14th256-257; Novaks Gynecology 14e p1036Normal functioning ovaries are seen in Rokitansky-Kuster-Hauser syndrome.Most likely diagnosis in a 16-year old girl who presents with primary amenorrhea, normal sexual development, normal breasts Tanner stage 5 but minimal pubic hair Tanner stage 1 is androgen insensitivity syndrome.Androgen Insensitivity Syndrome: Because the testes produce normal amounts of mullerian-inhibiting factor MIF, also known as mullerian-inhibiting substance MIS or anti-mullerian hormonefactor AMHAMF, affected individuals do not have fallopian tubes, a uterus, or a proximal upper vagina. Most cases are identified in the newborn period by the presence of inguinal masses, which later are identified as testes during surgery. Some patients are first seen in the teenage years for evaluation of primary amenorrhea. In addition, adolescent patients have no pubic and axillary hair, with otherwise scanty body hair, and lack acne, although breast is normal as a result of conversion of testosterone to estradiol.Turners syndrome All secondary sexual characters are absent.Mullerian agenesis Patient presents with primary amenorrhea with well-developed secondary sexual characters breast and pubic hair.Premature ovarian failure Patient presents with secondary amenorrhea Classification of Sexual Maturity States in GirlsSMR StagePubic HairBreasts1PreadolescentPreadolescent2Sparse, lightly pigmented, straight medial border of labiaBreast and papilla elevated as small mound; diameter of areola increased3Darker, beginning to curl, increased amountBreast and areola enlarged, no contour separation4Coarse, curly, abundant, but less than in adultAreola and papilla form secondary mound5Adult feminine triangle, spread to medial surface of thighsMature, nipple projects, areola part of general breast contourAndrogen insensitivity syndrome AISAndrogen insensitivity syndrome formerly known as testicular Feminization, is an X-linked recessive condition resulting in a Failure of normal masculinization of the external genitalia in chromosomally male individuals.This failure of virilisaiion can be either complete androgen insensitivity syndrome CAIS or partial androgen insensitivity syndrome PAIS, depending on the amount of residual receptor function.Complete Androgen Insensitivity SyndromePartial Androgen Insensitivity Syndrome Karyotype: 46,XY Female external genitalia with normal labia, clitoris, and vaginal introitus. Affected individuals have normal testes with normal production of testosterone and normal conversion to dihydrotestosterone DHT, which differentiates this condition from 5-alpha reductase deficiency. Because the testes produce normal amounts of mullerian-inhibiting factor MIF, also known as mullerian-inhibiting substance MIS or anti-mullerian hormonefactor AMU AMF. affected individuals do not have fallopian tubes, a uterus, or a proximal upper vagina. Karyotype: 46.XY Range from mildly virilised female external genitalia clitorimegaly without other external anomalies to mildly underviriiized male external genitalia hypospadias andor diminished penile size. Affected individuals have normal testes with normal production of testosterone and normal conversion to dihydrotestosterone DHT, which differentiates this condition from 5-alpha reductase deficiency. Because the testes produce normal amounts of mullerian-inhibiting factor MIF, also known as mullerian-inhibiting substance MIS or anti-mulierian hormonefactor AMH AMF, affected individuals do not have fallopian tubes, a uterus, or a proximal upper vagina.Characteristic Features:Most cases are identified in the newborn period by the presence of inguinal masses, which later are identified as testes during surgery.Some patients are first seen in the teenage years for evaluation of primary amenorrhea. Many of these patients have a history of surgery for hernias andor the presence of gonads in the inguinal canals, which were considered ovaries and returned to the abdomen.In addition, adolescent patients have no pubic and axillary hair, with otherwise scanty body hair, and lack acne, although breast is normal as a result of conversion of testosterone to estradiol.Management:Management of AIS is currently limited to symptomatic management: no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutationsQ.Areas of management include sex assignment, genitoplasty, gonadectomy in relation to tumor risk, hormone replacement therapy, genetic counseling, and psychological counseling.Rokitansky-Kuster-Hauser syndromeMullerian agenesis is the cause of primary amenorrhea, which is characterized by absence of uterus vagina, also known as Rokitansky-Kuster- Hauser syndromeQRare disorder; Prevalence: 1:4000-5000 female birthsPatients have a 46,XX karyotype and normal secondary sex characteristicsQ.Characteristic Features of Rokitan sky-Kuster-Hauser SyndromeExternal genitalia appear normal, but only a shallow vaginal pouch is presentQ.Ovarian function is normalQ.Absence of both the vagina and uterusQ.Only symmetric uterine remnants the muscular buds, normal fallopian tubes, and normal ovaries are presentQ. 