Mayer-Rokitansky-Küster-Hauser Syndrome with Situs Inversus Totalis: A Rare Case Report

11 February 2023: Articles

Challenging differential diagnosis, Rare disease, Congenital defects / diseases, Rare coexistence of disease or pathology

Hari Soekersi ^A , Riza Putri Aulia Hernowo ^A*

DOI: 10.12659/AJCR.939011

Am J Case Rep 2023; 24:e939011

Table 2. Patient comparison with cases in the literature.

Features	Our patient	Ekbote et al [22]	Ozkurt et al [22] (Patient 1)	Ozkurt et al [22] (Patient 2)
Age	30-year-old	24-year-old	16-year-old	21-year-old
Presentation	Primary amenorrhea	Infertility	Primary amenorrhea	Primary amenorrhea
Karyotype	46,XX	46,XX	46,XX	46,XX

Uterus	No uterus	Septate	No uterus	No uterus
Vagina	No vagina	Normal	Normal	Normal
Ovaries	Normal	Normal	Normal	Normal

Situs inversus	Present	Present	Present	Present
Kidneys	Ectopic kidney	Horseshoe kidney	Ectopic kidney	Normal
Musculoskeletal	Scoliosis	Scoliosis, fused vertebrae, webbed neck	Scoliosis	Scoliosis