Mayer-Rokitansky-Kuster-Hauser syndrome with gonadohypoplasia:a rare case report
DOI:
https://doi.org/10.18203/2320-6012.ijrms20162002Keywords:
Congenital abnormality, Karyotype, Primary amennorheaAbstract
MRKH (Mayer Rokitansky Kuster Hauser) syndrome is a congenital abnormality seen in one out of 5,000 women characterized by the agenesis of the vagina, cervix, and uterus. It is also associated with kidney, bone and hearing difficulties. The ovaries are present with a normal function similar to that of a healthy reproductive woman’s by producing eggs and female hormones. Chromosomes are the normal 46xx female karyotype. We report this rare syndrome in a 26–year-old female where she had presented with complaints of absence of uterus with the absence of left kidney. She didn’t attain menarchy, secondary sexual characters are well developed. Small right ovarian follicular cyst with a rim of ovarian tissue was observed. She had undergone vaginoplasty.
References
Shakir S, Warady BA. MURCS Association. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003;695.
Heller-Boersma JG, Schmidt UH, Edmonds DK. Psychological distress in women with uterovaginal agenesis (Mayer- Rokitansky- Kuster- Hauser syndrome, MRKH). Psychosomatics. 2009;50:277-81.
Braun-Quentin C, Billes C, Bowing B, Kotzot D. MURCS association: case report and review. J Med Genet. 1996;33:618-20.
Morcel K, Watrin T, Jaffre F, Deschamps S, Omilli F, Pellerin I, et al. Involvement of ITIH5, a Candidate Gene for Congenital Uterovaginal Aplasia (Mayer-Rokitansky-Küster-Hauser Syndrome), in Female Genital Tract Development. Gene Expression. 2013;15(5-6):207-14.
Sultan C, Biason-Lauber A, Philibert P. Mayer-Rokitansky-Küster-Hauser syndrome: recent clinical and genetic findings. Gynecol Endocrinol. 2009;25:8-11.
Azoury RS, Jones HWJ: Cytogenetic findings in patients with congenital absence of the vagina. Am J ObstetGynecol. 1966;94:178-80.
Sarto GE. Cytogenetics of fifty patients with primary amenorrhea. Am J Obstet Gynecol. 1974;119:14-23.
Fraser IS, Baird DT, Hobson BM, Michie EA, Hunter W. Cyclical ovarian function in women with congenital absence of the uterus and vagina. J Clin Endocrinol Metab. 1973;36:634-7.
Ugur M, Karakaya S, Zorlu G, Arslan S, Gulerman C, Kukner S, et al. Polycystic ovaries in association with mullerian anomalies. Eur J Obstet Gynecol Reprod Biol. 1995;62:57-9.
Ghirardini G, Magnani A. Mayer-Rokitansky-Kuster-Hauser syndrome and ovarian cancer. Report of a case. Clin Exp Obstet Gynecol. 1995;22:247-8.
Rodriguez E, Pombo F, Alvarez C, Arnal F. Tumor in ectopic omental ovary in Mayer-Rokitansky-Kuster-Hauser syndrome: CT findings. J Comput Assist Tomogr. 1998;22:758-9.