Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature [PDF]
Children, 2022 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterizing females with absence of the uterus and part of the vagina. Several genetic defects have been correlated with the presence of MRKH; however, the exact etiology is ...
Varvara Ermioni Triantafyllidi +5 more
doaj +4 more sources
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a ...
Morten Krogh Herlin +2 more
doaj +6 more sources
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications [PDF]
Frontiers in EndocrinologyMayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by agenesis/aplasia of the uterus and upper part of the vagina in females with normal external genitalia and a normal female karyotype (46,XX).
Morten Krogh Herlin
doaj +4 more sources
The Endometrial Transcription Landscape of MRKH Syndrome. [PDF]
Front Cell Dev Biol, 2020 The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (OMIM 277000) is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. While genetic causes have been identified for a small subset of patients and epigenetic mechanisms presumably contribute to the pathogenic unfolding, too, the etiology of the ...
Hentrich T +11 more
europepmc +7 more sources
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [PDF]
Orphanet Journal of Rare Diseases, 2007 The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype.
Camborieux Laure +2 more
doaj +3 more sources
A rare case of adult ovarian hernia in MRKH syndrome. [PDF]
BJR Case Rep, 2017 Inguinal hernias containing ovary have a documented incidence of 3%. Most of the cases are associated with congenital anomalies of genital tract such as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A 20-year-old female presented with primary amenorrhoea, normal secondary sexual characteristics and genetic karyotyping showing 46XX chromosome.
Mohanty HS +5 more
europepmc +3 more sources
The Sexuality of Adolescents and Young Women With MRKH Syndrome: A Qualitative Study
Journal of Sexual Medicine, 2021 Vaginal agenesis, most commonly referred as Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome, is mostly diagnosed as primary amenorrhea in teenage girls; although there is plenty of literature concerning the formation of a neovagina, limited research has focused on the psychological burden of this diagnosis to the girls.To enlighten health providers into
Lina Michala
exaly +4 more sources
Müllerian Agenesis Presenting as Primary Amenorrhea in a 16-Year-Old Girl From a Low-Resource Setting in Bangladesh: Psychological Impact and Multidisciplinary Management. [PDF]
Clin Case RepABSTRACT 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.
Sakib IA +5 more
europepmc +2 more sources
Long-Term Psychosocial Outcomes in Japanese Mayer-Rokitansky-Küster-Hauser Syndrome: A Single-Center Study. [PDF]
J Obstet Gynaecol ResABSTRACT Aim Vaginal creation enables sexual intercourse in patients with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. However, long‐term psychosocial outcomes, particularly in Japanese patients, remain underreported. This study aimed to explore the long‐term psychosocial outcomes associated with different choices of vaginal creation in patients ...
Okunomiya A +8 more
europepmc +2 more sources
Co-Occurrence of Sotos Syndrome and Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in 2 Patients. [PDF]
JCEM Case RepAbstract Sotos syndrome is an autosomal dominant condition caused by a pathogenic variant of NSD1 and characterized by a distinctive facial appearance, learning disability, and overgrowth. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by agenesis or aplasia of the uterus and upper part of the ...
Mustafa M +3 more
europepmc +3 more sources