A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome

Abstract

46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. The coexistence of both these disorders is extremely rare. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome with anatomically dispersed congenital anomalies unique among reported cases.

Keywords: 46; Mayer-Rokitansky-Kuster-Hauser syndrome; XX gonadal dysgenesis; hypergonadotropic hypogonadism; primary amenorrhea.

Figure 1

Arrows show the absence of breast development and axillary hair

Figure 2

Arrow shows fusion of the second and third lumbar vertebrae and scoliosis of dorsal spine

Figure 3

T2-weighed coronal image of pelvis shows the absence of uterus and ovaries in the magnetic resonance image of pelvis and the absence of ovaries in bilateral adnexa

Figure 4

T1 axial fluid attenuation inversion recovery image at the level of pituitary fossa shows normal pituitary fossa

Figure 5

46,XX karyotype complement