Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

Chu, Chunfang; Li, Lin; Li, Shenghui; Zhou, Qi; Zheng, Ping; Zhang, Yu-Di; Duan, Ai-hong; Lu, Dan; Wu, Yu-Mei

doi:10.1186/s40246-022-00385-0

Human Genomics

Table 1 Clinical information of the MRKH patients

From: Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

Patient No	Age at diagnosis	ESHRE and ESGE classification 2021	ASRM Müllerian anomalies	Uterus	Ovaries	Urinary system	Symptoms	Associated malformations	Classification
Fc-M-1	6	U5bC4V4	Müllerian agenesis	Full uterine aplasia	Normal	The left pelvic kidney without function and the right kidney compensatory enlarged	No symptoms, Ultrasound found	Congenital anal atresia with vestibular fistula; Ventricular septal defect; accessory auricle	Type II
Fc-M-2	15	U5bC4V4	Müllerian agenesis	Bilateral uterine remnants without rudimentary cavity	Normal	Normal	Primary amenorrhea	ND	Type I
Fc-M-3	17	U5bC4V4	Müllerian agenesis	Bilateral uterine remnants without rudimentary cavity	Normal	Normal	Primary amenorrhea and dyspareunia	ND	Type I
Fc-M-4	16	U5bC4V4	Müllerian agenesis	Full uterine aplasia	Normal	Normal	Primary amenorrhea and dyspareunia	ND	Type I
Fc-M-5	17	U5bC4V4	Müllerian agenesis	Bilateral uterine remnants without rudimentary cavity	Normal	Normal	Primary amenorrhea and dyspareunia	ND	Type I
Fc-M-6	18	U5bC4V4	Müllerian agenesis	Bilateral uterine remnants without rudimentary cavity	Normal	Normal	Primary amenorrhea and dyspareunia	ND	Type I
Fc-M-7	18	U5bC4V4	Müllerian agenesis	Bilateral uterine remnants without rudimentary cavity	Normal	Normal	Primary amenorrhea and dyspareunia	Congenital cleft palate; bilateral fallopian tubal dysplasia	Type II
Fc-M-8	16	U5bC4V4	Müllerian agenesis	Bilateral uterine remnants without rudimentary cavity	Normal	Normal	Primary amenorrhea and dyspareunia	ND	Type I
Fc-M-9	16	U5bC4V4	Müllerian agenesis	Full uterine aplasia	Normal	Normal	Primary amenorrhea and dyspareunia	dextroversion of the heart; persistent left superior vena cava	Type II
Fc-M-10	15	U5bC4V4	Müllerian agenesis	Bilateral uterine remnants without rudimentary cavity	Normal	Normal	Primary amenorrhea and dyspareunia	ND	Type I

ESHRE, European Society of Human Reproduction and Embryology; ESGE, European Society of Gastrointestinal Endoscopy; ASRM, American Society for Reproductive Medicine
Classification of the MRKH syndrome: Type I MRKH syndrome refers to isolated uterovaginal agenesis with no associated extragenital malformations, Type II refers to all cases with any associated extragenital abnormality (renal, skeletal, and others)
All patients reported no family history of genital and other organ malformations
ND, not described

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ISSN: 1479-7364

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