Müllerian anomalies and endometriosis: associations and phenotypic variations.

Müllerian anomalies are congenital conditions characterized by the incomplete development of the female reproductive tract. Women affected by Müllerian anomalies often display additional malformations of the renal, skeletal, and cardiovascular system, and are at a higher risk for infertility and adverse pregnancy outcomes. Several Müllerian anomalies have been reported in association with endometriosis, but it is unclear if all classes or anatomical variations are associated with the disease.

McIndoe Vaginoplasty in MRKHS: Case Report and Literature Review.

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare congenital disorder characterized by agenesis of the uterus and upper two-thirds of the vagina. It affects around 1 in 4000-5000 females and is of two types: type 1, also known as isolated Müllerian aplasia or Rokitansky, which involves only uterovaginal agenesis, and type 2, presents as uterovaginal agenesis along with renal, cardiac, and other organ anomalies. Despite the absence of vaginal and uterine structures, individuals with MRKHS typically present with normal secondary sexual characteristics and ovarian functions.

Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.

: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.

Significance of ultrasonography in diagnosing transverse testicular ectopia: A case report.

An uncommon congenital abnormality known as crossed testicular ectopia (CTE) or transverse testicular ectopia (TTE) occurs when both testes migrate into the same hemiscrotum. Inguinal hernia and persistent Müllerian duct syndrome are frequently associated with it. We present a case of "TTE" in a 1-year-old boy with an empty right hemiscrotum and left inguinal hernia.

Ectopic Pregnancy in a Non-communicating Rudimentary Uterine Horn: A Case of Successful Medical Management and Literature Review.

A non-communicating rudimentary uterine horn is a Müllerian abnormality that manifests due to abnormal Müllerian duct development. This abnormality is associated with endometriosis, infertility, and pregnancy complications, including ectopic pregnancy, abnormal fetal presentation, abruption, increased fetal mortality and morbidity, preterm rupture of membranes, preterm birth, intrauterine growth restriction, and uterine rupture. If pregnancy does occur, there is a high risk of complications, most notably rupture of the rudimentary horn.

Vaginal clear cell adenocarcinoma in Herlyn-Werner-Wunderlich syndrome: A case report.

Background: Herlyn-Werner-Wunderlich (HWW) syndrome is a rare Müllerian duct anomaly, characterized by a combination of urogenital abnormalities. The occurrence of primary cervico-vaginal carcinomas in patients with HWW syndrome is exceptionally rare, posing significant challenges for screening, early diagnosis, and effective management.

Case Summary: We report a rare case of primary clear cell carcinoma of the vagina complicated in a 40-year-old woman with HWW syndrome.

A case study of transneovaginal oocyte retrieval after novel Lee's neovaginoplasty in Mayer-Rokitansky-Küster-Hauser syndrome.

Objective: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that results in vaginal agenesis. Lee's neovaginoplasty is a novel surgery for reconstructing the vagina. Transneovaginal oocyte retrieval completely changes the scope of fertility for patients with MRKH syndrome who have undergone neovaginal reconstruction.