Medina HPJ

Language: Spanish
References: 4
Page: 1-3
PDF size: 571.47 Kb.

ABSTRACT

Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina, showing normal development of secondary sexual characteristics and a normal 46, XX Karyotype. It affects at least 1 out of 4500 women. The MRKH syndrome may be isolated (Type I) but it is more frequently associated with renal, vertebral and, to a lesser extent, auditory and cardiac defects (MRKH type II MURCS association). The first sign of the MRKH syndrome is a primary amenorrhea in young women presenting with normal development of secondary characteristics and normal external genitalia, with normal and functional ovaries and a Karyotype XX without visible chromosomal anomaly.In familiar cases the syndrome seems to be transmitted as a dominant autosomic feature with incomplete penetrance and a variable expressiveness. This suggests the participation of any mutation in an important development gen or a limited chromosomal imbalance. However, the etiology of this syndrome is still unclear. The case presented here is about a 13-year-old female teenager with this syndrome. The literature on this topic will be reviewed.

REFERENCES

1. 1.- Morcel K, Guerrier D, Watrin T, Pellerin I, Levêque J. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: clinical description and genetics. J Gynecol Obstet Biol Reprod (Paris). 2008;37(6):539-46.

2. 2.- Morcel K, Camborieux L. Programme de Recherches sur les Aplasies Müllériennes (PRAM), and Daniel Guerrier, Mayer-Rokitansky-Küster-Hauser (MRKH) síndrome. Orphanet J Rare Dis 2007;2:13.

3. 3.- Barbosa G, Varela Guzmán M. Adolescente con síndrome de Mayer-Von-Rokitansky-Küster- Hauser: La importancia de un majejo integral multidisciplinario. Revista Colombiana de Obstetricia y Ginecología 2006;57(4):305-11.

4. 4.- Jonguitud Aguilar A, León Arias JA, Reynaga Ortega CD. Amenorrea primaria: A propósito de un caso con el síndrome de Mayer-Rokitansky-Küster-Hauser. Revista Mexicana de Pediatría 2010;77(3):123-27.