Тұқымдық Мюллер өзектерінің қалыптасу синдромы

Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives (fallopian tubes, uterus, and/or the upper part of the vagina) in what would be considered a genetically and otherwise physically normal male animal by typical human based standards. In humans, PMDS typically is due to an autosomal recessive congenital disorder and is considered by some to be a form of pseudohermaphroditism due to the presence of Müllerian derivatives. PMDS can also present in non human animals. Typical features include undescended testes (cryptorchidism) and the presence of a small, underdeveloped uterus in an XY infant or adult. This condition is usually caused by deficiency of fetal anti Müllerian hormone (AMH) effect due to mutations of the gene for AMH or the anti Müllerian hormone receptor, but may also be as a result of insensitivity to AMH of the target organ. Along with cryptorchidism, is also inguinal hernias which may be presented unilaterally (affects one testicle) or bilaterally (affects both testicles). With the AMHR2 gene mutation (PMDS Type 2), the AMHR2 is either not produced, produced in deficient amounts, defective, or the Müllerian ducts manifested a resistance to AMH. The condition occurs in males and consists of normal functioning reproductive organs and gonads, but also female reproductive organs such as the uterus and the fallopian tubes. The fetus has two sets of tubes which give rise to accessory reproductive organs the (Wolffian) mesonephric ducts and the (Müllerian) paramesonephric ducts. Usually, the Wolffian duct gives rise to male reproductive organs (specifically the testicle, epididymis and vas deferens) while the Müllerian to female (the fallopian tubes, the uterus and the vagina), while the other duct regresses. In PMDS, an abnormality in the anti Müllerian hormone signaling pathway causes the in males redundant Müllerian duct to persist and give rise to variously developed female reproductive organs. PMDS has various causes related to AMH or receptor abnormalities. For example, AMH has failed to synthesize, failed to release or was secreted at the wrong time. Normally, both the Müllerian and Wolffian ducts are present during the 7th week of gestation. At approximately the end of the 7th and the beginning of the 8th week of gestation, the Sertoli cell's secretion of AMH occurs, causing male sex differentiation during fetal development. PMDS is usually coincidentally found during surgery for inguinal hernia, or when searching for adult male infertility causes.

Another method for the confirmation of PMDS is genetic testing. PMDS patients display low levels of AMH within the serum, and low levels of testosterone. The World Health Organization (WHO) standard of care is to delay surgery until the child is old enough to participate in informed consent; performing intersex genital surgeries on newborn infants is considered a human rights violation, including by the WHO. The main form of treatment is laparotomy, a modern and minimally invasive type of surgery. Laparotomy properly positions the testes within the scrotum (orchidopexy) and removes Müllerian structures, the uterus, and fallopian tubes. The Müllerian structures and cryptorchidism can also develop into cancer, although this is incredibly rare. If PMDS is found during adulthood, or if Müllerian structures had to be left behind due to risks in surgery, biopsies of the remaining Müllerian structures can be performed. Upon pathohistological observation, the endometrial tissues appear atrophied, and the fallopian tubes have begun to congest showing signs of fibrosis.

PMDS is a relatively rare congenital conditon. From current data, approximately 45% of the known cases are caused by mutations in the AMH gene, being a mutation on chromosome 19 (Type I PMDS). Approximately, 40% are AMHR2 mutations, on the AMH receptor type 2 gene, which is on chromosome 12 (Type 2 PMDS). The remaining unknown 15% are referred to as idiopathic PMDS.

Especially before the 21st century, these conditions were hard to diagnose due to the lack of modern imaging capabilities. For this reason, the older population, or those in poorer countries found out later. PMDS was usually overlooked because the external symptoms, such as the cryptorchidism and inguinal hernias, were assumed to be the only complication. A case reported in 2013, involves a 50 year old male with a history of low testosterone levels, high cholesterol and the congenital absence of his right testis. Imaging revealed that the patient had three cystic masses, with structures similar to the uterus and ovaries, thus PMDS. During the operation, the surgeons found malignant degeneration of the Müllerian remnants which occurs if PMDS is unnoticed for a long period of time. The cause of the complications presented in the male patient was due to the unidentified bilateral cryptorchidism since birth, as doctors at that time assumed the complication was just the "congenital absence of his right testis". Overlooking the symptoms of PDMS can cause permanent negative effects such as infertility and future malignancies, as shown by this male patient. The malignant degeneration of the Müllerian structures is supportive evidence for the cause of the male patient's infertility.