CONGENITAL ABSENCE OF UTERUS

Sadia Anwar

doi:10.46903/gjms/17.01.2015

CONGENITAL ABSENCE OF UTERUS

Sadia Anwar

Abstract

These are two case reports of females with primary amenorrhea, well developed secondary sexual characteristics and congenital absence of uterus. The incidence of Mayer-Rokitansky-Kuester-Hauser syndrome was not clearly established, but studies indicate a variation of 1/4,000 and 1/5,000 live births of the female sex. The syndrome is characterized by aplasia of the Müllerian duct (uterus and upper two-thirds of the vagina) on a person who has karyotype 46, XX with female phenotype characteristic of primary amenorrhea in adolescence. Treatment is usually delayed until the patient is ready to begin sexual activity.

Keywords

Rokitansky syndrome; Mullerian duct; Karyotype; Primary amenorrhea.

Full Text:

PDF

References

Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer-Rokitansky- Küster-Hauser syndrome (congenital absence of uterus and vagina) - phenotyp manifestations and genetic approaches. J Negat Results in Biomed 2006;5:1. https://doi.org/10.1186/1477-5751-5-1

Karine Morcel, Laure Camborieux, Programme de Recherches sur les Aplasies Müllériennes (PRAM), Daniel Guerrier. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet J Rare Dis 2007; 2:13. https://doi.org/10.1186/1750-1172-2-13

Dornelas MT, Arruda FR, Anna LLS, Nett GM, Souza RG, Machado DC, et al. Vaginal reconstruction by neurovascular pudendal thigh flap in Rokitansky’s syndrome. Rev Bras Cir Plást 2010;25:525-31. https://doi.org/10.1590/S1983-51752010000300021

Folch M, Pigem I, Konje JC. Müllerian agenesis: etiology, diagnosis, and management. Obstet Gynecol Surv 2000;55:644-9. https://doi.org/10.1097/00006254-200010000-00023

Sharma BB, Sharma S, Singh Y, Balesa J. Mayer-Rokitansky-Kuester- Hauser Type I Syndrome - A Case Report. Indian J Case Reports 2015;1:8-10. https://doi.org/10.32677/IJCR.2015.v01.i01.003

Sultan C, Biason-Lauber A, Philibert P. Mayer-Rokitansky-Kuester- Hauser syndrome: Recent clinical and genetic findings. Gynecol Endocrinol 2009;25:8-11. https://doi.org/10.1080/09513590802288291

Chandiramani M, Gardiner CA, Padfield CJ, Ikhena SE. Mayer - Rokitansky - Kuester - Hauser syndrome. J Obstet Gynaecol 2006;26:603-6. https://doi.org/10.1080/01443610600889751

Oppelt P, Renner SP, Kellerman A, Brucker S, Hauser GA, Ludwig KS, et al. Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging. Human Reprod 2006;21:792-7. https://doi.org/10.1093/humrep/dei381

Edmonds DK. Dewhurst’s Textbook of Obstetrics & Gynaecology, 8th ed. New Jersey; John Wiley: 2012. https://doi.org/10.1002/9781119979449

DOI: https://doi.org/10.46903/gjms/17.01.2015