Unusual association of Turner syndrome and Mayer-Rokitansky-Küster-Hauser syndrome

Abstract

Gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) are the most common causes of primary amenorrhoea. Patients with gonadal dysgenesis present with primary amenorrhoea and lack of secondary sexual characteristics, which, in contrast, are present in patients with MRKHS. The coexistence of the 2 syndromes has been reported in only a few studies so far. We describe a case of a 15-year-old girl who presented with short stature and primary amenorrhoea. Investigations revealed hypergonadotropic hypogonadism, and absence of the uterus, and upper two-thirds of the vagina, with presence of the rudimentary lower third of the vagina and non-visualised bilateral ovaries on imaging. Karyotyping obtained by lymphocyte culture GTG banding revealed 45X/46XX. The patient was diagnosed as having a rare case of gonadal dysgenesis with MRKH. She was started on growth hormone therapy. The association of these syndromes is uncommon, and has further implications on fertility and pregnancy, affecting the quality of life.

Figure 1

Patient (middle) is shorter than younger and older siblings (from left to right).

Figure 2

Short fourth metacarpal of the right hand.

Figure 3

Shield chest.

Figure 4

Mid-sagittal T2-weighted image showing absence of uterine tissue.

Figure 5

Axial T2-weighted image shows absence of uterine and ovarian tissue.

Figure 6

Both kidneys are normal in size, position and signal intensity.