mullerian duct anomalies (mdas) are relatively common disorders that are particularly responsible for obstetrical complications and have a prevalence of about 3%-4% in the general population (1, 2). uterine malformations may result from arrested development of the mullerian ducts, failure of fusion of the mullerian ducts or failure of resorption of the median septum (1, 2).

Symptomatic Mullerian duct cyst is a rare entity in children. A 9-month-old male infant presented with bowel and urinary obstructive symptoms. Imaging investigations revealed a cystic mass in the rectovesical pouch compressing bladder neck and rectum. At laparotomy, a Mullerian duct cyst was found. Most of the cyst was excised and the remaining cyst mucosa was cauterized. The child improved the...

Crossed testicular ectopia (CTE)/transverse testicular ectopia (TTE) is a rare but well known congenital anomaly, in which both gonads migrate toward the same hemiscrotum. It is usually associated with other abnormalities such as persistent Mullerian duct syndrome, true hermaphroditism, inguinal hernia, hypospadias, pseudohermaphroditism, and scrotal anomalies. About 100 cases of transverse tes...

Inherited disorders of sexual development are important to identify as a cause of inherited infertility or sterility in humans and animals. Investigation of these disorders in dogs and cats can identify new mutations, allowing us to eliminate inherited disorders from breeding populations, while contributing to the understanding of mammalian sexual development and differentiation. This review up...

Persistent mullerian duct syndrome (PMDS) is an unusual form of male pseudohermaphroditism characterized by the presence of a uterus and fallopian tubes in an otherwise differentiated male with a 46XY karyotype. Since the first report in 1939, approximately 150 new cases have been reported. Most refer to isolated cases, while a few involve siblings. Transverse testicular ectopia (TTE) is a rare...

OBJECTIVE To screen for mutations in AMH and AMHR2 genes in patients with persistent Müllerian duct syndrome (PMDS). PATIENTS AND METHOD Genomic DNA of eight patients with PMDS was obtained from peripheral blood leukocytes. Directed sequencing of the coding regions and the exon-intron boundaries of AMH and AMHR2 were performed. RESULTS The AMH mutations p.Arg95*, p.Arg123Trp, c.556-2A>G, an...

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...

A 10-month-old male infant presented with bilateral inguinal hernia and left un-descended testis. During right herniotomy, both gonads were found on same side with mullerian duct structures. On naked eye examination, both gonads were normal looking. Excision of mullerian duct remnant and fixation of ectopic testis was made. Histopathological examination revealed that gonads were testicles. Pres...

Hernia uteri inguinalis (HUI) is one of the rarest causes of male pseudo-hermaphroditism worldwide. We report the case of a 49-year-old male with discovery of this anomaly during inguinal hernia repair. A 49-year-old man presented to the clinic for recurrent inguinal hernia with enlarging left scrotum consistent with hydrocele on imaging. Upon exploration of the left groin, the left testis was ...