Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report

Abstract

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 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 association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental. We report the case of a 24-year-old woman who presented with primary amenorrhea. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. There were no other morphological malformations.

A Rare Case of Coexistence of Pituitary Stalk Interruption Syndrome and Mayer-Rokitansky-Küster-Hauser Syndrome

“…Additionally, MRKH syndrome coexistence with 46, XX gonadal dysgenesis has been reported [3]. However, 46, XX gonadal dysgenesis often presents with hypergonadotropic hypogonadism and absence of ovaries, as well as uterus and vagina [5], which did not support our case.…”

A rare case of 46,XX gonadal dysgenesis, Mayer–Rokitansky–Kuster–Hauser syndrome, pituitary and thyroid hypoplasia

“…The concomitance of gonadal dysgenesis and MRKH syndrome is extremely rare with very few cases reported. From such cases in the literature, 46,XX gonadal dysgenesis and Mullerian agenesis patients presented with normal female phenotype, primary amenorrhea, absence of puberty, and hypergonadotropic hypogonadism with or without somatic malformations, the latter being extremely rare ( 3 , 4 , 5 , 6 , 8 ).…”

“…On neck ultrasound, the isthmus measured 0.3 cm in anteroposterior diameter; the right thyroid lobe measured 1.46 × 1.18 × 1.8 cm in size with an estimated volume of 1.63 cm 3 and the left thyroid lobe has a size of 1.54 × 0.88 × 1.66 cm with an estimated volume of 1.19 cm 3 (the normal volume of the thyroid gland in adult females is 10-15cm 3 ) suggesting bilateral thyroid hypoplasia.…”

“…46,XX gonadal dysgenesis is a primary ovarian defect that leads to premature ovarian failure. It is a very rare disorder that occurs in <1 in 10 000 women characterized by underdeveloped ovaries resulting in absence of puberty, primary amenorrhea, and hypergonadotropic hypogonadism ( 3 , 4 , 5 , 6 ).…”