Differences between NMRI and DBA/2J mice in the development of somites and susceptibility to methylnitrosourea-induced skeleton anomalies.

The development of DBA/2J mouse strain embryos is nearly 12 h - or 6 somite pairs - delayed as compared to the outbred NMRI mouse embryos of the same age on gestation days (GD) 8-12. To evaluate inter-strain differences in susceptibility to teratogens, dams were treated with methylnitrosourea (MNU, 5 mg/kg body weight i.p.) on defined gestation days (NMRI: GD 9, 91/2 or 10; DBA/2J: GD 10 or 101/2). Skeletal anomalies produced by MNU on both mouse strains varied with the GD of treatment. The pattern of anomalies produced by MNU on a given GD markedly differed between the two mouse strains, yet they were similar -with a few exceptions- when exposures at equivalent embryonic stages are compared. Findings from this study indicated that strain-dependent differences in the developmental stage of mouse embryos of the same gestational age occur, a possibility that has been often neglected when inter-strain differences in susceptibility to developmental toxicants are interpreted.

Differences between NMRI and DBA/2J mice in the development of somites and susceptibility to methylnitrosourea-induced skeleton anomalies

ABSTRACT The development of DBA/2J mouse strain embryos is nearly 12 h - or 6 somite pairs - delayed as compared to the outbred NMRI mouse embryos of the same age on gestation days (GD) 8-12. To evaluate inter-strain differences in susceptibility to teratogens, dams were treated with methylnitrosourea (MNU, 5 mg/kg body weight i.p.) on defined gestation days (NMRI: GD 9, 91/2 or 10; DBA/2J: GD 10 or 101/2). Skeletal anomalies produced by MNU on both mouse strains varied with the GD of treatment. The pattern of anomalies produced by MNU on a given GD markedly differed between the two mouse strains, yet they were similar -with a few exceptions- when exposures at equivalent embryonic stages are compared. Findings from this study indicated that strain-dependent differences in the developmental stage of mouse embryos of the same gestational age occur, a possibility that has been often neglected when inter-strain differences in susceptibility to developmental toxicants are interpreted.

[Mayer-Rokitansky-Küster-Hauser syndrome. A report of two cases]. / Síndrome de Mayer-Rokitansky-Küster-Hauser: reporte de dos casos y revisión de la bibliografía.

The Mayer-Rokitansky-Kuster-Hauser is a rare congenital anomaly characterized by lack of vaginal and uterine development variable and normal ovaries. It results from agenesis or hypoplasia Müller duct system. Cervicovaginal agenesis as part of the complex syndrome, is even rarer. We report two cases: adolescent patient with primary amenorrhea, cervicovaginal agenesis and chronic pelvic pain, and a 28-year-old patient with primary amenorrhea, congenital absence of uterus and vagina.

[Mayer-Rokitansky-Küster-Hauser syndrome. A case report and a review of the medical literature on its treatment]. / Sindrome de Mayer-Rokitansky-Küster-Hauser. Reporte de un caso y revisión de la bibliografía relacionada con su tratamiento.

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects 1 out of 4500 women. It is characterized by the congenital absence of the upper third of the vagina, uterus and tubes; it is usually associated to renal malformations, and patients show normal phenotype and genotype. Age at diagnosis is between 15 and 18. A case is reported and a critical review of the information about the management alternatives of patients with MRKH syndrome available in medical literature is made. The paper is intended to help establish the best criteria and treatment options for a comprehensive therapeutic approach to MRKH patients.

Vaginoplasty with oxidized cellulose: anatomical, functional and histological evaluation.

OBJECTIVE: To present and evaluate the histological, anatomical and functional results of the McIndoe procedure, as modified by the application of oxidized cellulose (Surgicel™) in women with vaginal agenesis. STUDY DESIGN: Eleven patients with vaginal agenesis underwent vaginoplasty using a mould that had been wrapped with oxidized cellulose. The surgeries were performed between January 2009 and January 2010. Eight of the patients had been diagnosed with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, and the remaining three had been diagnosed with cervicovaginal agenesis (CVA). The mean follow-up time was 14 months (range, 6-24 months), and it included clinical examinations and evaluation of the Female Sexual Function Index (FSFI). Neovaginal biopsies were taken at the time of surgery and 1-12 months after surgery. The histology of the samples was evaluated to determine squamous epithelialization of the neovaginal tissue over time, and the total collagen content of the neovaginas were compared with normal control subjects. For statistical analysis we employed the ANOVA test and the t-test. RESULTS: At 6 months, anatomical success was achieved in 100% of the MRKH syndrome patients (neovaginal length ≥ 6 cm), and functional success was achieved in 100% of the patients who started their sexual life (FSFI score ≥ 30). Biopsy results showed complete epithelialization of the neovagina after 5 months in all samples, and the collagen content was comparable to that of a normal vagina. One major postoperative complication occurred in a patient with CVA, which culminated in death. The uterovaginal canalization procedure was unsuccessful at creating an outflow tract for regular menses in all cases. CONCLUSIONS: The procedure described here offers patients a functional vagina by means of a simple and low-cost procedure that elicits squamous epithelialization of the neovaginal vault, with total collagen content similar to that of normal vaginal tissue. It is a potential alternative therapeutic approach for MRKH syndrome but not applicable to cases of CVA.

[Atipical form of Mayer-Rokitansky-Kuster-Hauser syndrome with renal malformation and skeletal abnormalities (MURCS association)]. / Forma atípica da síndrome de Mayer-Rokitansky-Kuster-Hauser com malformação renal e displasia cervicotorácica (associação de MURCS).

The atypical and more severe form of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or MRKH type II is also known as MURCS association, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal dysplasia (R) and cervico-thoracic dysplasia (CS). It affects female patients with normal karyotype and ovarian function, evolving to primary amenorrhea. It has an incidence of 1:50,000, but it is underestimated due to late diagnosis and undefined etiology. We describe the cases of a child and an adolescent in order to predict the diagnosis even in childhood, before the onset of amenorrhea. Patients had in common renal malformation, agenesis or hypoplasia of Müllerian derivatives and vertebral anomalies, establishing the diagnosis of MURCS. The relevance of this paper is to show the importance of further investigation when some of pathologic signs are present, researching correlated abnormalities in order to establish an early diagnosis and consequently to provide guidance to the patients and their families about the best way to conduct the case, including genetic counseling.

Müllerian remnant leiomyomas in women with Mayer-Rokitansky-Küster-Hauser syndrome.

BACKGROUND: Müllerian remnant leiomyomas occur in women with Mayer-Rokitansky-Küster Hauser syndrome in which leiomyomas arise in absence of a uterus. This is a rare condition and we present two unusual cases. CASES: In the first case, a woman with Mayer-Rokitansky-Küster-Hauser syndrome diagnosed was found to have a pelvic mass and was scheduled for laparotomy. A few days before the surgery, acute abdominal pain developed. At surgery she was found to have a twisted adnexum including a Müllerian remnant leiomyoma. This was untwisted successfully; the leiomyoma was excised and the ovary was saved. In the second case, one member of a pair of monozygotic twins was found to have leiomyomas at age 33 after having an absent uterus diagnosed at laparoscopy 8 years previously. She had successful removal of the leiomyoma at laparotomy. Her sister had normal development and had two children. CONCLUSION: Mayer-Rokitansky-Küster-Hauser syndrome leading to Müllerian remnant leiomyomas is uncommon but should be suspected in women in whom a pelvic mass develops after the confirmation of the Müllerian defect.