WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals. An 18-year-old woman presented with primary amenorrhea and an absence of müllerian-derived structures, unilateral renal agenesis, and clinical signs of androgen excess--a phenotype resembling the Mayer-Rokitansky-Küster-Hauser syndrome and remarkabl...

This report describes a case of mucinous carcinoma and Müllerian metaplasia arising within an appendiceal duplication cyst found incidentally during an emergency Caesarian section. Intestinal duplication cysts are rare and although there are occasional reports of malignant transformation, this is the first case where Müllerian metaplasia was found concurrently with a malignancy. There was no pr...

Persistent Müllerian duct syndrome (PMDS) is a pseudohermaphroditism in males characterized by the presence of Müllerian duct derivatives. As PMDS dogs often lack clinical symptoms, a molecular diagnosis is essential to identify the syndrome in these animals. In this study, a new molecular method using DNA mismatch-specific Surveyor nuclease was developed. The Surveyor nuclease assay identified...

Müllerian inhibiting factor that induces regression of Müllerian ducts that in females would differentiate into the uterus. These processes for sex determination do not occur in females in the absence of SRY. Sex differentiation related genes such as SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10, which are located on either autosomes or the X chromosome, may have a role in gonad development and funct...

Extragenital malignant mixed mesodermal müllerian tumors (MT) are rare neoplasms with poor prognosis. Most of them affect women older than 60 years. We present here a case with primary peritoneal malignant mixed müllerian tumor occurring in a young woman who underwent previous hysterectomy and double oophorectomy secondary to a benign disease. We report on the clinical, pathological, and immuno...

Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshif...

Cytogenetic and molecular genetic analysis in a case of sex-discordant dizygotic twins revealed blood chimerism in the girl (46,XY in blood and 47,XX, + 21 in fibroblasts) caused by feto-fetal transfusion from her healthy brother. The girl presented with Down syndrome, aplasia of the uterus and the Fallopian tubes and normal female external genitalia. We propose that the lack of Müllerian struc...

A 27 year old female presented with two months history of continuous vaginal bleeding. On evaluation, she was diagnosed as a case of vaginal clear cell adenocarcinoma (VCCA) along with associated Müllerian duct anomalies including didelphys uterus with double vagina; left sided renal agenesis and situs inversus. Although VCCA is strongly linked to in-utero exposure with Diethyl stillboestrol (D...

Didelphys uterus, or double uterus, is an embryological developmental malformation of the müllerian ducts with the incidence of approximately 8.3% of all müllerian duct abnormalities (MDAs). Didelphys uterus accompanying dicavitary twin gestation is encountered as a very rare entity with overall incidence of about 1 in 1,000,000. We report a rare case of didelphys uterus, diagnosed since her fi...

Mathematical models of mimicry typically involve artificial prey species with fixed colorations or appearances; this enables a comparison of predation rates to demonstrate the level of protection a mimic might be afforded. Fruitful theoretical results have been produced using this method, but it is also useful to examine the possible evolutionary consequences of mimicry. To that end, we present...