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

Background A 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 presentation Herein, 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. Conclusions For 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.

Management of Groin Pain Using an Iliohypogastric Nerve Block in a Patient with Inguinal Hernia due to Persistent Müllerian Duct Syndrome

Persistent Müllerian duct syndrome can cause an inguinal hernia, although this is a rare occurrence; recurrent inguinal hernias can, in turn, cause ongoing groin pain. Management of groin pain plays an important role in patients’ quality of life. We present our experience with a 43-year-old man who had a 2-week history of left-sided groin pain. The patient underwent laparoscopic surgery for a left inguinal hernia via the transabdominal preperitoneal approach. Right-sided cryptorchidism was noted during surgery, with a solid structure—thought to be a uterus—extending into the left inguinal canal. The diagnosis was persistent Müllerian duct syndrome, and the groin pain was relieved after a laparoscopic right orchiectomy with a bilateral preperitoneal hernia repair using a mesh. Four years later, magnetic resonance imaging performed for new-onset left groin pain showed a left inguinal hernia caused by the uterine structure. We diagnosed the recurrent hernia as the cause of his pain. Prior to performing any invasive surgical procedures, an iliohypogastric nerve block was performed using 1% lidocaine. Short-term analgesia was provided by the block, improving his quality of life. He has been followed since then and has declined surgical neurectomy. An iliohypogastric nerve block can be an effective method of controlling groin pain caused by an inguinal hernia resulting from persistent Müllerian duct syndrome; the effectiveness of the nerve block will help determine whether surgical neurectomy is indicated for permanent pain control.

Two Novel AMHR2 Gene Variants in Monozygotic Twins with Persistent Müllerian Duct Syndrome

Background: Persistent müllerian duct syndrome (PMDS) is an autosomal recessive congenital abnormality for which müllerian derivatives, uterus, cervix, upper 2/3 vagina and fallopian tubes, persist in an otherwise normally virilized males. Mutations in the AMH gene and AMHR2 gene have been identified as causative. However, there has been no functional experimental analysis of AMHR2 or AMH variants that caused PMDS. We ascertained a Chinese PMDS pedigree. To elucidate the pathogenic mechanisms of variant, we used complementation-based NanoLuciferase Binary Technology (NanoBiT) to examine AMH and AMHR2 variants interaction in vivo. Using an ID-1 luciferase assay, we probed the effect of the two variants on the transcriptional activity of the TGFβ/BMP pathway. Results: Molecular studies revealed two novel variants [c.118G>C/p. Gly40Arg, c.1222G>C/p. Ala408Pro] in the AMHR2 gene of our monozygotic boys. The AMHR2 p. Ala408Pro variants affect a functional domain, result in impaired substrate recognition and affinity. For p.Gly40Arg variant, the arginine residue will disfigure the local backbone and alter function. The AMHR2 p.Gly40Arg variant reduces its ability to bind to AMH, while the p.Ala408Pro variant alters the kinase domain structure. Conclusion: Both variants significantly reduce TGFβ/BMP signaling. This study provides new methods and concepts as to the study of the molecular pathogenic mechanism of PMDS.

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.