Persistent Mullerian Duct Syndrome Research Articles

Reviewing recherche presentations of persistent Mullerian duct syndrome: case reports

BackgroundPersistent Mullerian Duct Syndrome (PMDS) is a type of pseudo-hermaphroditism occurring in males internally due to failure in the Anti Mullerian Hormone (AMH)-dependent sex differentiation pathway. Due to absent Anti Mullerian Hormone (AMH), the adult male has both the Wolffian and Mullerian duct derivatives. Considering the limited information available in the existing literature, malignant transformation in PMDS has rarely been reported.Case PresentationIn this article we present two cases of PMDS which have complicated in to malignancy with review of literature and histopathological correlation. Both of these patients presented with lower abdominal pain, for which computed tomography of abdomen and pelvis was performed following ultrasound of abdomen and pelvis Both the Wolffian and Mullerian duct derivates were visualized on the above mentioned scans in these genetically confirmed males (46 XY).ConclusionFamiliarity with PMDS is necessary to diagnose the condition. Hence, in this article, we report recherche presentations of Persistent Mullerian Duct Syndrome which had complicated into malignancies.

Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia Presenting as an Irreducible Inguinal Hernia

Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia Presenting as an Irreducible Inguinal Hernia

Mullerian ducts derivatives in abdominal cryptorchism in children

Disorder of sex determination is a condition associated with clinical and biochemical discrepancy between genetic, gonadal, and phenotypic sex of a child requiring detailed examination for final selection of sex. Indications for sex determination can arise both in infancy and during puberty. Several conditions pertaining to abnormal sex differentiation are manifested as normal male genitalia with Mullerian ducts derivatives.The study objective is to present clinical observations of children with persistent Mullerian duct syndrome.The study presents 2 clinical cases of children with disorders of sex determination. Both children were initially hospitalized at the surgical facility with cryptorchism diagnosis, Mullerian duct derivatives were found intraoperatively. During examination of the children (karyotyping, histological and immunohistochemical examination) in one case persistent Mullerian duct syndrome was diagnosed, in the other - chromosomal abnormality of sex formation (45,X/46,XY), mixed dysgenesis of the gonads.If Mullerian duct derivatives are found during diagnostic laparoscopy, resection biopsy of the ambiguous gonad and intraoperative single-step urethrocystoscopy for visualization of the seminal colliculus and catherization of the uterus for its identification from the abdominal side should be performed. Further examination includes karyotyping, hormonal examination, consultations with an endocrinologist and a geneticist, and genetic examination if necessary.

A 35-year-old father with persistent Mullerian duct syndrome and seminoma of the right undescended testis: a rare case report

BackgroundA persistent Müllerian duct syndrome is a rare disorder of sexual differentiation characterized by the presence of the female reproductive system in a normal male.Case presentationHerein, we report a case of a 35-year-old father with persistent Müllerian duct syndrome and seminoma in the right undescended testis. The exploratory laparotomy was performed and revealed a mass in the right undescended testis and Müllerian duct structures.ConclusionsFor patients with cryptorchidism and inguinal hernia, the persistent Müllerian duct syndrome should be considered, and radiological evaluation of the genitourinary system is recommended for early diagnosis of persistent Müllerian duct syndrome. The persistent Müllerian duct syndrome is usually detected during a surgical operation, and it is considered a risk factor for developing testicular malignancies.

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.

Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.

Clinical Utility of Anti-Mullerian Hormone in Pediatrics.

ContextAnti-Mullerian hormone (AMH) was originally described in the context of sexual differentiation in the male fetus but has gained prominence now as a marker of ovarian reserve and fertility in females. In this mini-review, we offer an updated synopsis on AMH and its clinical utility in pediatric patients.Design and ResultsA systematic search was undertaken for studies related to the physiology of AMH, normative data, and clinical role in pediatrics. In males, AMH, secreted by Sertoli cells, is found at high levels prenatally and throughout childhood and declines with progression through puberty to overlap with levels in females. Thus, serum AMH has clinical utility as a marker of testicular tissue in males with differences in sexual development and cryptorchidism and in the evaluation of persistent Mullerian duct syndrome. In females, serum AMH has been used as a predictive marker of ovarian reserve and fertility, but prepubertal and adolescent AMH assessments need to be interpreted cautiously. AMH is also a marker of tumor burden, progression, and recurrence in germ cell tumors of the ovary.ConclusionsAMH has widespread clinical diagnostic utility in pediatrics but interpretation is often challenging and should be undertaken in the context of not only age and sex but also developmental and pubertal stage of the child. Nonstandardized assays necessitate the need for assay-specific normative data. The recognition of the role of AMH beyond gonadal development and maturation may usher in novel diagnostic and therapeutic applications that would further expand its utility in pediatric care.

A rare form of persistent Mullerian duct syndrome: Transverse testicular ectopia with germ cell testis cancer and hernia uteri inguinalis

Persistent Mullerian duct syndrome is a rare form disorder of sexual differentiation characterised by the persistence of Mullerian derivatives (fallopian tubes, uterus and the proximal vagina) in males with an XY karyotype and normal virilisation. We report a case of a 29-year-old man with right transverse testicular ectopia, mix germ cell cancer at ectopic right testis and left-sided obstructed inguinal hernia containing a uterus and fallopian tube. We performed orchiectomy and hysterectomy on the patient.

Persistent Mullerian Duct Syndrome in a Man with Unilateral Cryptorchidism : A Case Report

Introduction: Persistent Mullerian duct syndrome is a rare form of male pseudo-hermaphroditism characterized by the presence of Mullerian duct structures in an otherwise phenotypically, as well asgenotypically, normal man; only a few cases have been reported in the worldwide literature. A greatvariety of organs have been found in indirect inguinal hernial sacs. Case presentation: We report a case of 28 year old man, father of 2 children with unilateral cryptorchidism on the left side and testis and painful left groin mass. we found uterine tissue extending through the inguinal canal. Conclusions : PMDS is a rare form of male pseudo-hermaphroditism characterized by the presence of Mullerian duct structures in an otherwise phenotypically, as well as genotypically, normal man. Hernia uteri inguinalis is type I of the male form of PMDS, characterized by one descended testis and the herniation of the ipsilateral corner of the uterus and fallopian tube into the inguinal canal. Keywords: mullerian duct syndrome, cryptorchidism

Transverse testicular ectopia with inguinal hernia in an adult\u2014a case report

BackgroundTransverse testicular ectopia (TTE) is a rare congenital anomaly in which both the testis are in the same hemiscrotum or one testis in the inguinal canal of the same side. It is usually associated with other anomalies such as inguinal hernia, persistent Mullerian duct syndrome (PMDS), true hermaphroditism, and pseudo-hermaphroditism. In this case report, we present a rare case of TTE in an adult patient with fused vas deferens, aplastic right seminal vesicle, and right side inguinal hernia.Case presentationA 33-year-old male came with complaint of severe pain in the scrotum for 2 days with a long-standing history of right inguinoscrotal swelling. Clinical examination revealed a right inguinoscrotal swelling in which right testis was not palpable separately and left testis was palpable at periphery of the left hemiscrotum. Ultrasound imaging and MRI of the scrotum revealed TTE with both testes in the left hemiscrotum, fused vas deferens, right aplastic and left hypoplastic seminal vesicle, right side patent process vaginalis with a non-obstructive, and non-strangulated inguinal hernia. Surgical intervention with transeptal orchidodpexy was advised but not performed due to the patient’s unwillingness. Hence, we recommended an annual follow-up for the same.ConclusionThe present case report emphasizes that though TTE is a rare congenital anomaly, it should be considered as a differential diagnosis in patients with an absent testis and/or infertility, and a detailed imaging and biochemical investigation should be employed considering the wide spectrum of associated conditions.

Abstract #1015220: Rare Case of a Young Male with Persistent Mullerian Duct Syndrome

Persistent mullerian duct syndrome (PMDS) affects the development of sexual organ in male. This condition is inherited in an autosomal recessive pattern. Male with PMDS have normal testes and normal external genitalia. However they also have uterus and fallopian tubes. PMDS can present in one of three ways: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia and transverse testicular ectopia.

Persistent Mullerian duct syndrome and bilateral cryptorchidism

persistent Müllerian duct syndrome (PMDS) is a rare condition occasionally encountered in men with normal phenotype but with influencing internal sexual male development. This disorder is characterized by the presence of female reproductive structures such as cervix, fallopian tubes, uterus and upper part of vagina in normal males. PMSD is commonly diagnosed incidentally after testis examination for cryptorchidism or during any pelvic surgery. We report a case of PMDS along bilateral cryptorchidism that present with acute abdomen. A 16-year-old boys presented with abdominal pain and history of appendectomy one month ago and reoperation with collection diagnosis. In examination bilateral undescended testis (UDT) was discovered. An abdominal and pelvis CT scan with and without intravenous and oral of contrast material was performed, which showed a blind-ending, fluid-filled tubular structure arising just posterior to the prostate and extending into the both sides of the urinary bladder. Total excision of the uterus and bilateral fallopian tubes was performed. The patient was prepared for orchidopexy at another time. PMDS is a challenging condition to diagnose. Isolated UDT is the main presenting features of PMDS. Malignant transformation of the testis is the main risk facing those patients. Recent studies have also suggested the possibility of malignancy of PMDS components. Though it is rare, every surgeon should be fully prepared to manage this anomaly especially when operating upon UDT or cryptorchidism.

Persistent Mullerian Duct Syndrome: A Rare Case of an Adult Infertile Male with Bilateral Cryptorchidism

Background:Persistent mullerian duct syndrome (PMDS) is a very rare form of internal male pseudohermaphroditism in individuals who are phenotypically males with 46 XY karyotypes harboring internal female reproductive organs which are Mullerian derivatives. It occurs as a defect in the genes coding for the Mullerian inhibiting substance (MIS) or the anti Mullerian hormone (AMH) receptor, ultimately leading to failure of regression of Mullerian ducts.Case Presentation:A 29-year-old male with PMDS presented with complaints of primary infertility. Diagnosis was made with the help of high index of suspicion, radiological imaging, and karyotyping. Our patient underwent exploratory laparotomy with hysterectomy and bilateral orchidopexy.Conclusion:The purpose of this study was increasing awareness regarding rare entities and surgeons should have high clinical suspicion of PMDS when patient with bilateral undescended testis comes for the evaluation of primary infertility.

Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.

Persistent Müllerian duct syndrome (PMDS) is characterized by the persistence of Müllerian structures in male with normal phenotype. Most cases occur as a result of mutations in the anti-Müllerian hormone (AMH) or AMHR2 genes. In this study, we aim to discuss the results of clinical, laboratory, and molecular genetic analysis of cases detected to have AMHR2 gene mutation. A total of 11 cases from 6 families were included in the study. AMHR2 gene mutation analyses were performed by sequencing of the coding exons and the exon-intron boundaries of the genes. The American College of Medical Genetics guidelines were used for the classification of the detected variants. Six of the 11 cases were admitted due to bilateral undescended testes and five cases due to inguinal hernia (three transverse testicular ectopia and two hernia uterus inguinalis). All cases had normal AMH levels. Seven different variants were identified in the six families. The variants detected in four cases were considered novel (c.78del, c.71G > A, c.1460dup, c.1319A > G). Two of the novel variants were missense (exon 2 and exon 10) mutations, one was deletion (exon 2), and one duplication (exon 11). We identified four novel mutations in the AMHR2 gene resulting in PMDS. Duplication mutation (c.1460dup) in the AMHR2 gene causing PMDS was demonstrated for the first time. The most important complications of PMDS are infertility and malignancy. Early diagnosis is vital to preventing malignancy. Vas deferens and vascular structures may be injured during orchiopexy. Therefore, patients should always be referred to experienced clinics.

Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism

Homozygous loss of function mutations in genes encoding anti-Müllerian hormone (AMH) or its receptor (AMHRII) lead to persistent Müllerian duct syndrome (PMDS). PMDS is characterized by the presence of a uterus, fallopian tubes, cervix, and upper vagina in fully virilised 46,XY males. Both surgical management and long-term follow-up of these patients are challenging. Four cases with PMDS presented with cryptorchidism and inguinal hernia, and laparoscopic inguinal exploration revealed Müllerian remnants. Three of the patients had homozygous mutations in the AMH gene, one with a novel c.1673G>A (p.Gly558Asp) mutation, and one patient had an AMHRII mutation. All patients underwent a single-stage laparotomy in which the fundus of the uterus was split along the midline to release testes and to avoid damaging the vas deferens or the deferential artery. Biopsy of Müllerian remnants did not reveal any malignancy. The cases presented here expand the clinical and molecular presentation of PMDS. Cryptorchidism and inguinal hernia in the presence of Müllerian structures in an appropriately virilised 46,XY individual should suggest PMDS. Long-term reproductive and endocrinological surveillance is necessary.

Inguinal and Scrotal Swellings in Adults Can Be Persistent Müllerian Duct Syndrome with Tumors

Persistent Mullerian duct syndrome (PMDS) is a rare form of pseudohermaphroditism in males with a normal phenotype and the 46,XY karyotype. PMDS is characterized by the presence of persistent Mullerian structures (uterus, fallopian tubes, and upper vagina), owing to the deficiency of anti-Mullerian hormone. PMDS is usually incidentally recognized during surgery or laparoscopy for cryptorchidism, with or without an inguinal hernia. Tumor development in PMDS is not uncommon. In most cases, an accompanying tumor develops from an undescended testis, and the most common histology is seminoma. Tumors that originated from Mullerian structures are less frequent. Leiomyoma, originated from the rudimentary uterus in PMDS, is very rare, and only two cases have been reported in the literature. In this report, we present two PMDS cases, which were complicated by tumor development. In the first case, there were multiple leiomyomas in the uterine wall, and in the second one, there was a seminoma in the same-side testis.

Persistent Müllerian duct syndrome: A challenge in diagnosis and treatment

Persistent Müllerian duct syndrome (PMDS) is a very important issue in clinical practice, mainly because of its rarity and difficult diagnosis and management. PMDS was first described by Nilson[[1]] in 1939 and is caused by a defect in the Müllerian inhibiting factor (MIF) system. In the current issue of the Journal, Elabd and Almalki described a case of PMDS that warrants some highlighting of this condition.[[2]]

Persistence of Müllerian derivatives in an adult male

Persistent Müllerian duct syndrome (PMDS) is a rare congenital abnormality that leads to male disorders of sexual development (DSD) due to the persistence of Müllerian duct derivatives in otherwise normally virilized male patients with a normal karyotype. It is usually diagnosed in the early years of life at the time of surgery for cryptorchidism or repair of an inguinal hernia. Cases of affected adult males have been reported as well. We report a rare case of PMDS in a middle-aged (47-year-old) infertile male who was referred to the endocrine clinic for the evaluation of primary infertility. A high index of suspicion needs to diagnose such conditions as early treatment is necessary to preserve fertility and to reduce the occurrence of neoplastic transformation in remnant Müllerian structures.

Does Excision of Mullerian Structures Jeopardize Testicular Growth and Function in Persistent Mullerian Duct Syndrome (PMDS): a Single Center Experience

Persistent Mullerian duct syndrome (PMDS) is a rare form of Disorders of Sexual Development (DSD) characterized by persistence of mullerian structures in a phenotypically and genotypically normal male. The most frequent clinical presentation is that of unilateral or bilateral cryptorchidism. Contrasting opinions exist among clinicians regarding the most suitable surgical intervention in this condition and the potential of fertility later. This study revisits PMDS in terms of varied modes of presentation and the optimum surgical approach to such patients. It, thus, attempts to throw light on the pattern of testicular growth and function within a reasonable follow-up time post-removal of mullerian structures and orchidopexy. The study was conducted in a tertiary health care center in North India. It was a retrospective study carried out by retrieving details of ten patients who had undergone treatment over a span of 9 years (January 2010 to January 2019). The clinical features, family history, surgery undertaken, and follow-up are hereby highlighted along with review of literature. Cryptorchidism was the most common presentation. Orchidopexy with excision of mullerian structures could be done in all except one. Testicular position, volume and vascularity, penile growth, and erection were assessed during subsequent visits at 3, 6, 12, and 24 months. All testes were descended with preserved and normal vascularity. Volumes were in normal range and all experienced good erection. Inference regarding fertility was not possible until conclusion of the study due to ongoing follow-up. Cryptorchidism is the most common presenting feature of PMDS. Familial involvement should be kept in mind. Orchidopexy should be the target surgery. Mullerian structures should be removed ensuring testicular viability. This, when performed carefully, ensures normal testicular maturation. However, long follow-ups will be required for conclusive evidence on fertility.

Seminoma in a Transverse Testicular Ectopia: A Rare Case Report

Transverse testicular ectopia (TTE) is an extremely rare congenital anomaly of the testis, characterized by migration of one testis toward the contrary hemiscrotum. TTE is usually associated with other testicular abnormalities such as persistent Mullerian duct syndrome, hypospadias, true hermaphroditism, and scrotal anomalies. Testicular sonography is the main initial diagnostic modality, followed by magnetic resonance imaging of the scrotum. These imaging modalities are important for determination of TTE and characterization of the testicular lesions. This case report provides the high-resolution ultrasonography, Doppler ultrasonography, magnetic resonance imaging, and diffusion-weighted imaging findings of a young man with seminoma in the transverse testicular ectopia. In addition, data on tumor stiffness, obtained with point shear-wave sonoelastography, are presented.

Laparoscopic Management of Persistent Müllerian Duct Syndrome

Persistent Mullerian duct syndrome (PMDS) is characterized by persistence of Mullerian derivatives in a phenotypically and genotypically normal male. These patients have 46 XY karyotype with normal male external genitalia, virilization, and internal Mullerian duct structures. Typically, these patients have unilateral or bilateral undescended testes, bilateral fallopian tubes, a uterus, and an upper vagina draining into a prostatic utricle, as reported by Diamond and Uy (n.d.). We report a case of PMDS in a 25-year-old male, which present with primary infertility with bilateral cryptorchidism.