Undiagnosed Hirsutism Associated Mayer-Rokitansky-Küster-Hauser Syndrome in Dermatology OPD.

Sir,

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital malformation of the Mullerian duct system characterized by a congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype.

A 22-year-old married female was referred with excessive hair growth over face, chest and extremities since the age of 14 years for “laser hair reduction.” She gave a history of primary amenorrhea. There was no history of dysmenorrhea. She volunteered history of normal development of secondary sexual features of breasts as well as axillary and pubic hair. Examination revealed obvious coarse terminal hair over the face, sternum, supra-pubic, periumbilical region and the extremities [Figure 1]. Breast examination was normal. Genital examination revealed normal external genitalia with the absence of vagina [Figure 1]. There were no cushingoid features.

Figure 1

Coarse terminal hair over face (upper left), sternum (upper right), legs (lower left), normal external genitalia with absent vagina (lower right)

Ultrasound scan of the pelvis and abdomen revealed the absence of the uterus and right kidney [Figure 2]. Karyotyping revealed a normal 46 XX female karyotype [Figure 2]. Levels of luteinizing hormone, follicular stimulating hormone, prolactin, thyroid function tests, 17-hydroxyprogesterone, insulin, testosterone (free and total) and 17-hydroxyprogesterone, dehydroepiandrosterone were normal.

Figure 2

Ultrasound scan abdomen showing normal ovaries and absent uterus with karyotype (inset)

Counseling revealed her to be anxious. Her disability was an obvious stressor in day to day life. She was managed with psychotherapy and offered possible treatment modalities including reconstructive measures for her vaginal defect and advice on surrogacy. She was taken up for vaginal reconstruction and subsequently laser hair reduction after her surgery.

Follow-up on laser hair reduction has revealed reduced hair growth. She continues to attend psychotherapy sessions, with improvement in anxious predisposition after elimination of her obvious stressors.

MRKH syndrome arises as a result of Mullerian agenesis resulting from the failure of fusion of mesonephric duct with Wolffian duct manifesting as either an isolated vaginal, utero-vaginal aplasia (Type I or MRKH) or in combination with renal, skeletal, hearing and rarely cardiac defects and digital anomalies (Type II or Mullerian Renal Cervicothoracic Somite association) and are graded accordingly.[1] The reported incidence is 1 in 4500 female births.[2] Inheritance is sporadic but familial cases have been reported with autosomal dominant inheritance with incomplete penetrance.

Such patients classically present with primary amenorrhea with a normal female phenotype, a normal female karyotype-XX and normal, functioning ovaries with no evidence of androgen excess. Examination reveals normal secondary female sexual characteristics (pubic hair and breast development) and normal external genitalia. At the same time, the vagina is reduced to a dimple. Diagnosis is based on external examination, an ultrasonography (USG) of the abdomen and pelvis or magnetic resonance imaging (MRI) if the USG is inconclusive or laparoscopy if the MRI is doubtful. The biological status of these patients is female and karyotype reveals a normal XX chromosome with no abnormality. There is no external or endocrine sign of hyperandrogenism and endocrine evaluation reveals normal level of ovarian hormones, a normal testosterone level, 17-hydroxyprogesterone and dehydroepiandrosterone. Associated skeletal, cardiac and otological abnormalities may not be overt and hence radiographs of the spine, echocardiography and audiogram of these patients must be done. Uncommonly, these patients have associated polycystic ovarian syndrome or ovarian tumors.[34] An atypical rare case has been reported with hirsutism,[5] however with hyperprolactinemia. If a positive family history is present, it may warrant examination of relatives. Treatment guidelines of these patients stress psychological management, surgical construction of the vagina or dilatation and social support.

Our patient, a young married female was a classic case of MRKH syndrome as described above. She had no associated cardiac, skeletal, ovarian or endocrinal abnormality. Her biological status was female. However, she had hirsutism, which in the absence of any endocrine abnormality has not been reported in MRKH syndrome. Her presentation to our center stresses the need for primary care physicians and aestheticians to be alert to this syndrome and stresses the need for a referral to the concerned specialist for a thorough clinical evaluation followed by endocrinological work-up in any such case with hirsutism. Social issues and psychological counseling play a major role along with reconstructive surgery of the vagina.[67]