EMQ Answers
Justin C. Konje in Complete Revision Guide for MRCOG Part 2, 2019
J Mayer-Rökitansky-Küster-Hauser syndrome (Müllerian agenesis)The most likely diagnosis is Mayer-Rökitansky-Küster-Hauser (MRKH) syndrome (Müllerian agenesis). This is an end-organ failure with normal secondary sexual characteristics. The vaginal may be absent of blind ending as in this patient. MRKH syndrome is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Müllerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5000 new-born girls. Müllerian agenesis is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with normal karyotype (46XX). Anomalies in the genital tract range from atresia of the upper vagina to total agenesis with urinary tract abnormalities. Its incidence is approximately 1:5000 new-born girls.
Variation of sex differentiation
Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo in Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Ultrasound: A pelvic ultrasound to assess for the presence of the uterus is more sensitive in the newborn given the maternal stimulation of the endometrium and relative enlargement of the uterus. After the maternal estrogenization recedes, the uterus shrinks prior to puberty and can be difficult to image with ultrasound. It is important to note that the inability to image the uterus prior to puberty is not diagnostic for Müllerian agenesis.44 Ultrasound may be able to identify the location of testes, but this may not be accurate. Additionally, ultrasound is important to assess for renal anomalies, which can be associated with Müllerian anomalies and with Turner syndrome.
Menstrual Periods, Absent (Amenorrhoea)
Tony Hollingworth in Differential Diagnosis in Obstetrics and Gynaecology: An A-Z, 2015
The Wolffian ducts regress in the embryo after the sixth week if the Y chromosome is lacking. The Müllerian ducts will develop into the tubes and uterus, and fuse caudally with the urogenital sinus to produce the vagina (Fig. 2). Abnormalities may occur in the process of fusion; these may be medial or vertical and give rise to primary amenorrhoea. Complete or partial Müllerian agenesis may occur. In these cases, the genotype is 46XX with normal secondary sexual characteristics and normal ovarian tissue, but the vagina is short and may require surgery. There may also be associated urinary tract abnormalities.
Uterine transplantation
Published in Climacteric, 2019
The second attempt was in Turkey in 2011. The recipient was a 23-year-old woman, with complete Müllerian agenesis for which a prior vaginal reconstruction had been performed. The donor was 22 years old, a deceased multiorgan donor. Eighteen months after the transplantation, embryo transfer was attempted in two separate cycles; a single day-3 thawed embryo was transferred under real-time ultrasound guidance 3 days after the initial progesterone application. Eleven days after the first transfer, serum human chorionic gonadotropin (hCG) levels were consistent with a biochemical pregnancy (hCG, 35.7 IU/l) but dropped 4 days later. Following the embryo transfer in the second cycle, transvaginal ultrasound confirmed an intrauterine pregnancy of 5 gestational weeks, but the gestation failed to develop further15,16.
Vaginal reconstruction with the modified rectosigmoid colon: surgical technique, long-term results and sexual outcomes
Published in Journal of Plastic Surgery and Hand Surgery, 2018
Ömer Özkan, Özlenen Özkan, Anı Çinpolat, Nasuh Utku Doğan, Gamze Bektaş, Kemal Dolay, Alihan Gürkan, Cumhur Arıcı, Selen Doğan
A rudimentary uterus was present in all cases of Müllerian agenesis, while a normal uterus and cervical structure were present in one patient with accompanying uterovesical fistula. This patient had regular monthly periods, and in her detailed anamnesis it was revealed that bleeding was accompanied by urination which later proved to be related to a fistula tract between uterus and bladder. This fistula tract was excised intraoperatively. The proximal edge of the rectosigmoid colon was sutured to intact cervical opening and the distal end to intraoitus.
An alternative approach to vaginal dilation in patients with Meyer-Rokitanski-Küster-Hauser syndrome: two case reports
Published in Gynecological Endocrinology, 2020
Kátia Crys Moura Ogliari, Salete da Silva Rios, Ana Carolina Rios Chen, Juliana Rios Chen, Ceres Nunes Resende, Edward Araujo Júnior
The MRKH is commonly diagnosed in adolescence or early adulthood; primary amenorrhea is often the first sign of MRKH in women with normal secondary sexual characteristics and karyotype 46, XX [2]. Another important manifestation of Müllerian agenesis is difficulty with sexual intercourse because of impossibility of vaginal penetration, although sexual desire and pleasure remain intact [5].
Related Knowledge Centers
- Amenorrhea
- Birth Defect
- Bladder
- Paramesonephric Duct
- Urogenital Sinus
- Cervix
- Urethra
- Vagina
- Uterus
- Vaginal Hypoplasia