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Published in Justin C. Konje, 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
Published in Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo, Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Anne-Marie Amies Oelschlager, Margarett Shnorhavorian
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.
Anatomy and sexual differentiation
Published in Andrea Akkad, Marwan Habiba, Justin Konje, David Taylor, EMQs in Obstetrics and Gynaecology, 2017
Andrea Akkad, Marwan Habiba, Justin Konje, David Taylor
An absent uterus is seen in Müllerian agenesis, which is an embryological rather than an endocrine problem. The Müllerian (paramesonephric) ducts give rise to uterus, fallopian tubes and the upper portion of the vagina. Ovaries are not affected, and the hormonal profile is therefore normal, with normal secondary sexual characteristics. The reason for seeking medical help is primarily amenorrhoea. Individuals with Müllerian agenesis usually have a normal female karyotype.
Misdiagnosis of associated mullerian agenesis in a female with 46, XX gonadal dysgenesis: a case report and review of literature
Published in Journal of Obstetrics and Gynaecology, 2021
Lynn Opdecam, Jorge Barudy Vasquez, Michael Camerlinck, Amin Makar
Gonadal dysgenesis in females is defined as the absence or limited development of the ovaries resulting in hypergonadotropic hypogonadism. It is the most common cause of primary amenorrhoea (Manne et al. 2016). Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second most common cause of primary amenorrhoea and is a specific type of malformation due to interrupted embryonic development of the mullerian ducts. Genital abnormalities may range from upper vagina atresia to complete mullerian agenesis in both phenotypically and karyotypically normal females with functional ovaries and normal hormonal levels. We present a rare case with diagnostic challenge.
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
Vaginal reconstructions with pedicled rectosigmoid colon transfer were performed in 43 patients. The mean age was 29.6 with a range of 17 and 48 years. The etiology was MRKH syndrome in 34 patients, while nine patients had undergone male to female sex reassignment surgery in other institutions, but adequate vaginal depth had not been achieved. The mean ages (and range) of the transgender and MRKH patients were 40 (24–48) and 26.9 (17–43) years, respectively (Table 1). Development of the ovaries and secondary sex characteristics was normal in all cases of Müllerian agenesis.
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].