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Background: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a congenital disorder of yet unknown etiology, characterized by agenesis/hypoplasia of the müllerian duct system. The occurrence of ovarian cancer (OC) in MRKHS is rare, with
Roberta Villa +3 more
doaj +1 more source
A rare case of Mayer–Rokitansky–Kuster–Hauser syndrome with right ectopic kidney diagnosed on MRI
Introduction Meyer–Rokitansky–Küster–Hauser syndrome is rare congenital abnormality in females with a blind ending vagina. There can be associated hypoplasia of uterus. The syndrome is of sporadic origin and affects the reproductive life.
Rohan Kumar Singh +5 more
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Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund +5 more
wiley +1 more source
Inverted appendix: Computed tomographic colonography diagnosis in a patient and lesson learned
The role of computed tomographic colonography in the diagnosis of an inverted appendix is described in an adult woman, with Mayer-Rokitansky-Küster-Hauser syndrome, who underwent a laparotomy during her childhood for severe abdominal pain.
Joel Bortz
doaj +1 more source
Overall, 21 patients with uterine, cervical, and vaginal aplasia were treated successfully with neovagina formation. In 6 out of 8 patients, with obstructed uterine cavity, anastomosis was successful; one underwent hysterectomy and one elective hemi‐hysterectomy.
Grigoris F. Grimbizis +5 more
wiley +1 more source
ABSTRACT Here we present follow up of 3 cases of mid vaginal atresia and a functional uterus treated by single stage utero vaginal anastomosis using rectal tube insertion in uterus (for drainage) simultaneously with the amnion graft for vaginoplasty. This procedure successfully restored regular menstruation with fertility preservation and low morbidity.
Elham Askary +5 more
wiley +1 more source
Prolapse and sexual function 8 years after neovagina according to Shears: a study of 43 cases with Mayer-von Rokitansky-Küster-Hauser syndrome [PDF]
To investigate sexual and anatomical outcome after Shears neovagina in patients with Mayer-von Rokitansky-Kuster-Hauser syndrome (MRKH)
Im Obersteg, Jeannine +4 more
core +2 more sources
Presence of fibroids in the absence of uterus- Mayer-Rokitansky-Küster-Hauser syndrome with fibroids: a case report [PDF]
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is rare congenital anomaly with complete absence of uterus and upper part of vagina. Fibroids are one of the most common benign tumours arising in women.
Suryanarayana, Priya +3 more
core +1 more source
Modern competency‐based teaching of human sexual development
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler +2 more
wiley +1 more source
ABSTRACT Müllerian agenesis (MRKH syndrome) causes primary amenorrhea in phenotypically normal females. We report a 16‐year‐old girl with normal secondary sexual characteristics, a short blind vagina, absent uterus on ultrasonography, and a 46,XX karyotype.
Iftekhar Ahmed Sakib +5 more
wiley +1 more source

