Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case
A 25-year-old female presented with complaints of primary amenorrhea. She stated that she became sexually active at 17 years and had noted changes associated with puberty around 14 years of age. She was of short stature (height 90 cm; weight 30 kg), had facial dysmorphism, macrocephaly, short neck, and low hair line. The patient had normal breast development, normal body hair distribution, including pubic and axillary hair. Pelvic examination showed her vulva, labia minora and majora, and clitoris as normal and well estrogenized. The vagina was found to be blindly ending, with the length of 6 cm.\nBlood routine and renal function tests were normal. Hormone profile included measurement of follicular stimulating hormone, luteinizing hormone, estradiol, and 17-hydroxyprogesterone, which were all normal, indicating normal hypothalamic-pituitary-ovarian axis. An ultrasound scan of the abdomen and pelvis confirmed a blind vagina and poorly formed uterus and absent left kidney. The single right pelvic kidney was within normal limits for size and appearance. Magnetic resonance imaging abdomen revealed absent uterus and vagina presence of ovary at both para iliac region and absent left kidney; Grade-I spondylolisthesis with bilateral spondylosis at L5-S1 level [Figures and ]. Chromosomal study indicated normal (46, XX) female karyotype [], which, obviously, is what differentiates MRKH syndrome from other genital tract development defects such as Turner syndrome (45, 0X) and androgen insensitivity syndrome (46, XY). Two-dimensional echocardiogram carried out was normal. Computed tomography brain carried out showed Dandy Walker malformation with vermian hypoplasia, partial agenesis of corpus callosum, and colpocephaly with obstructive hydrocephalus []. X-ray skull showed Macrocephaly [].