A 19 years old patient came to the out patient department with complaints of primary amenorrhea. She had well- developed breast and pubic hair. However there was absence of vagina and uterus but normal ovaries. Likely diagnosis is:
Ans. b. Mullerian agenesis (Ref: Shaw's Gynecology 14/256-257; Novak's Gynecology 14/1036)Mullerian agenesis is the cause of primary amenorrhea, which is characterized by absence of uterus /vagina, also known as Rokitansky-Kuster- Hausen 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 hormone/factor (AMH/AMF), 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.Turner's 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 (AIS)Androgen 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 hormone/factor (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 and/or 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 hormone/factor (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 and/or 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.
XYY
Mullerian agenesis
Gonadal dysgenesis
Klinefelter's syndrome
Primary Amenorrhea