Persistent Müllerian duct syndrome (PMDS) presenting as bilateral cryptorchidism and left-sided inguinal hernia.

PMDS (persistent Müllerian duct syndrome) is a rare disorder of sex development characterised by the presence of Müllerian duct remnants in a phenotypically male individual with a 46XY karyotype. Radiological investigations play a crucial role in diagnosing and characterising this condition. Ultrasound and MRI are the modalities of choice. They help to non-invasively localise the gonads and Müllerian duct derivatives. Broadly, PMDS has two anatomical variants: male type and female type. The case report presented here does not fit into these classically described variants and can be called a variant of the female type. There is a risk of infertility and malignant transformation of undescended testis and Müllerian duct derivatives in cases of PMDS. Hence, management is focused on preventing these risks. Surgical intervention involves orchidopexy, removal of Müllerian duct derivatives and inguinal hernia repair.

Diagnostic and therapeutic challenges with germ cell tumours associated with transverse testicular ectopia and persistent Müllerian duct syndrome.

Transverse testicular ectopia (TTE) is an infrequent ectopic testis where both testes descend via the same inguinal canal, located in the same hemiscrotum, and augments the risk of developing testicular tumours. Type II TTE is accompanied by persistent Müllerian duct syndrome, where the Müllerian structures persist for various reasons. Here, we present a case of an adult in his early 30s, who presented with a right testicular swelling and was diagnosed as type II TTE and testicular mixed germ cell tumour after surgery. We could find only 13 similar cases of TTE and testicular tumours in the literature. Our case highlights the importance of clinical acumen with detailed history, meticulous clinical examination, radiological investigations and a detailed pathological examination while dealing with such sporadic presentations.

Clinical characteristics and surgical treatment of children with 45, X/46, XY differences of sex development.

OBJECTIVE: This study retrospectively analyzes the clinical data of 18 children with 45,X/46,XY differences of sex development (DSD), summarizes their clinical features and explores gonadal and Müllerian duct remnants surgical treatment methods. METHODS: The clinical data of 18 children with karyotype 45,X/46,XY diagnosed in the Department of Urology of Hunan Children's Hospital from March 2011 to October 2021 were collected. All children underwent HCG stimulation testing, laparoscopic exploration, urethroscopy and bilateral gonadal biopsy. After DSD multidisciplinary team (MDT) meeting, some children underwent gonadectomy and genitalia reconstructive surgeries. RESULTS: The median age at first diagnosis was 1 year and 4 months (range: 10 months ∼ 16 years and 3 months). 5 children presented with female gender; they all maintained their gender assignment. The external masculinisation score (EMS) of patients raised as female was 1 (0∼3) [median (range)]. 13 children presented with male gender, 10 maintained a male gender, 3 were assigned a neutral gender. The EMS of the children raised as male was 5 (2-8) [median (range)], the EMS of the children raised as neutral gender was 4 (3.5-9.5) [median (range)]. The HCG stimulation test was positive in 11 cases, partially positive in 2 case, and negative in 5 cases. There was no relationship between the percentage of chimerism (45X ratio) and the appearance and severity of genital abnormalities. (t=-1.08, P=0.298). There was 1 case of complete gonadal dysgenesis (CGD), 10 cases of mixed gonadal dysgenesis (MGD), 5 cases of partial gonadal dysgenesis (PGD), 1 case of bilateral normal testes and 1 case of ovotesticular DSD (split-lateral type). No gonadal specimen showed germ cell tumor changes. Five cases selected to maintain the female gender, among which 3 cases underwent bilateral gonadectomy and genitalia reconstructive surgeries. Among the 10 children who chose to maintain the male gender, unilateral streak gonadectomy was performed in 4 (57.1%) with MGD, unilateral dysgenetic orchiectomy in 1 (25%) with PGD, and right ovariectomy in 1 with OTDSD. Nine of them underwent genitalia reconstructive surgeries. Four of them preserved their uterus and vagina did not have any complications during the follow-up period. CONCLUSION: Hypospadias combined with cryptorchidism and residual Müllerian duct structures is the most common phenotype of children with 45, X/46, XY DSD. Mixed gonadal dysgenesis (MGD) is the most common gonadal type. Gender assignment should be carefully selected after a thorough evaluation, while genitalia reconstructive surgery can be considered in selected patients. In children who choose the male gender, the Müllerian duct can be preserved.

A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings.

BACKGROUND: Persistent müllerian duct syndrome (PMDS) is characterized by the persistence of müllerian duct derivatives in otherwise normally virilized 46,XY males. Biallelic mutations of the anti-müllerian hormone (AMH) and AMH receptor type 2 (AMHR2) genes lead to PMDS type 1 and 2, respectively. AIM: The aims of the study were to report the clinical, hormonal, and genetic findings in a patient with PMDS and discuss surgical strategies to achieve successful orchidopexy. RESULTS: A 4-year-old boy was evaluated after the incidental finding of müllerian derivates during laparoscopy for nonpalpable gonads. Karyotype was 46,XY and laboratory tests revealed normal serum gonadotropin and androgen levels but undetectable serum AMH levels. PMDS was suspected. Molecular analysis revealed a novel variant c.902_929del in exon 5 and a previously reported mutation (c.367C>T) in exon 1 of the AMH gene. Successful orchidopexy was performed in two sequential surgeries in which the müllerian duct structure was preserved and divided to protect the vascular supply to the gonads. Histological evaluation of the testicular biopsy showed mild signs of dysgenesis. Doppler ultrasound showed blood flow in both testes positioned in the scrotum 1.5 years after surgery. CONCLUSION: PMDS is a rare entity that requires a high index of suspicion (from surgeons) when evaluating a patient with bilateral cryptorchidism. Surgical treatment is challenging and long-term follow-up is essential. Histological evaluation of the testis deserves further investigation.

NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.

RATIONALE: Disorders/differences of sex development (DSD) include a diverse group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is discordant. It involves several variant genes, and one of them is NR5A1. NR5A1 encodes a signal transduction regulator in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal pathway, and pathogenic mutation in this gene is a cause of 46,XY DSD. PATIENT CONCERNS: A 12-year-old individual raised as a girl was admitted to the hospital due to hirsutism and a deep voice that began at 11 years old. The individual exhibited testicular hypoplasia, clitoral hypertrophy, and female external genitalia. DIAGNOSES: The patient was diagnosed 46,XY partial gonadal dysgenesis. The cytogenetics revealed a 46,XY karyotype and DNA sequencing shown a variant in NR5A1. Pelvic magnetic resonance imaging showed absence of uterus and ovaries. The abdominopelvic ultrasound revealed bilateral testicle in bilateral groin. Pathology confirmed testes dysgenesis. INTERVENTIONS: The patient underwent bilateral orchiectomy at age 12 years and was given a feminizing hormonal treatment of 0.5 mg/day of estradiol valerate tablets. OUTCOMES: The patient recovered well after surgery and hormonal treatment and had a regression in hirsutism and clitoromegaly. LESSONS: 46,XY DSD is a rare disease that the development of chromosomal, gonadal, or anatomical sex is discordant, when diagnosed 46,XY DSD, the identification of an NR5A1 variant should be considered.

Transverse testicular ectopia with persistent Mullerian duct syndrome: Report and review of two cases.

Transverse testicular ectopia is a rare anomaly characterized by both testes descending through a single inguinal canal. The objective of this study was to investigate the pathogenesis, diagnosis, and treatment of transverse testicular ectopia (TTE) with persistent Mullerian duct syndrome (PMDS), and to deepen the understanding of the disease in clinical. A retrospective analysis of the clinical manifestation, diagnosis, and treatment of two children suffering from TTE with PMDS was conducted. Previous studies on the characteristics, diagnosis, and treatment of this disease were reviewed. The two patients were treated with laparoscopy-assisted transseptal orchidopexy-inguinal evaluation. After the surgery, the two patients recovered well. The follow-up visits were done 3 months after the operation. An ultrasound examination confirmed that the two patients had testes in the orthotopic position and normal size. TTE with PMDS is an exceedingly rare disease. The patients manifested cryptorchidism on one side; contralateral inguinal hernia was suspected. Detailed physical and ultrasound examinations before the operation are the key to the early diagnosis of TTE. Laparoscopic evaluation is helpful for the diagnosis and finding of other abnormalities. Surgical treatment is the only method to cure the disease; long-term follow-up is needed after TTE operation.

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.

Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports.

BACKGROUND: Transverse testicular ectopia (TTE) is a rare anomaly in which both testes descend through a single inguinal canal into the same hemiscrotum. Although almost 20-50% of patients with TTE exhibit persistent Müllerian duct syndrome (PMDS) and many genetic analyses have been performed, no reports have described the genes contributing to TTE without PMDS. Here, we report two cases of TTE without PMDS using immunohistochemical staining and genetic analysis. CASE PRESENTATION: Two Asian patients with TTE without PMDS were subjected to orchiopexy. We performed testicular biopsies during operation and obtained blood samples before the operation. Testicular tissues were stained for c-kit, placental alkaline phosphatase (PLAP), and undifferentiated embryonic cell transcription factor 1 (UTF1) to evaluate the presence of intratubular malignant germ cells. Additionally, we performed polymerase chain reaction-based direct sequencing to identify single nucleotide polymorphisms in genes associated with regression of the Müllerian duct and testicular descent (that is, anti-Müllerian hormone [AMH], AMH receptor 2 [AMHR2], insulin-like 3 [INSL3], and relaxin family peptide receptor 2 [RXFP2]). The three-dimensional structures of proteins were predicted using SWISS-MODEL. In immunohistochemical analysis, c-kit and UTF1 were positive, whereas PLAP was negative in three testicular tissue samples from the two patients. These features were also detected on the unaffected side. In variant analysis, common missense variants in the AMH gene (g.365G>T; c.165G>T; p.Ser49Ile [rs10407022]) were observed. All variants in INSL3 and RXFP2 genes were intronic or silent. CONCLUSIONS: Because UTF1, a specific marker of spermatogonial stem cell activity, was expressed in both the affected and unaffected sides in the testicular tissues of two patients, the risk of malignancy may be high in these patients. Although the etiology of TTE without PMDS remains unclear, our variant analysis results were consistent with previous reports, and variants in the AMH gene (rs10407022) may contribute to the specific phenotype of TTE without PMDS.

Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype

ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.

[Gender selection and postoperative follow-up analysis in 85 children with 46, XY disorders of sex development].

Objective: To understand the gender selection and prognosis of children with 46, XY disorders of sex development (DSD) after surgery, and to provide reference for future clinical decision-making. Methods: Data of 85 (80 males and 5 females) postoperative patients with 46, XY DSD with follow-up age of 6(4,11) years who were treated at the Department of Endocrinology, Genetics and Metabolism of Beijing Children's Hospital Affiliated to Capital Medical University during the period from September 2009 to April 2018 were retrospectively analyzed. The patients were grouped based on diagnosis. The basis of postoperative gender selection, patient satisfaction and related factors, gender characteristics, and adolescent development were analyzed. The Pre-school Activities Inventory or the Children's Sex Role Inventory were used in the analysis of gender tendency. Mann-Whitney U test was used to compare postoperative gender satisfaction of different factors. The Kruskal-Wallis method was used to compare the postoperative gender satisfaction of each group. Fisher's test was used to compare the follow-up status of male children over 11 years old in each group. Results: Among the 85 patients, 62 individuals were raised as girls after birth, 9 were facultative and 14 as boys. According to the diagnosis, there were 31 individuals in group 1 (with 5α-reductase deficiency), 11 individuals in group 2 (with androgen insensitivity syndrome), 9 individuals in group 3 (with NR5A1 gene mutation), 4 individuals in group 4 (with hypergonadotropic gonadal dysplasia), and 30 indiviudals in group 5 (with unclear diagnosis and normal human choionic gonadotophin test). Among the 71 children who were raised as girls or facultative children after birth, 66 selected as boys, and 5 continued as girls (among them, 3 individuals were female with passive selection, and 2 individuals of testicular dysplasia with uterus in group 4 and 5 were female with active selection). Among the 71 patients faced with gender selection, only one was unsatisfied, that was a postoperative female. There was no significant difference in postoperative gender satisfaction among different disease diagnoses, surgical age and penis length (χ(2)(H)=6.007, P=0.199; Z=-0.860, P=0.390; Z=-0.438, P=0.661). Fifty-nine of the 85 cases completed the gender tendency scale test and 46 cases (78%) were consistent. In the male patients, 45 cases were consistent. Thirteen inconsistent patients (22%) were female or facultative after birth who were 5 years old or older. There was no stigmatization noticed in the inconsistent patients' daily life and school social settings. There were 22 male patients aged 11 years and older. They were 13(12,16) years old. Fourteen (64%) individuals' penile length reached the normal minimum, 15 (68%) individuals' testicular volume were equal or more than 4 ml, 16 (73%) individuals' sex hormones entered puberty levels, 12 (55%) individuals had been spermatorrhea, the age of first spermatorrhea was (13.3±2.4) years. They were satisfied and adaptable after surgery. There was no significant difference in the above indicators among the groups (χ²=2.999, P=0.694; χ²=7.278, P=0.086; χ²=5.597, P=0.358; χ²=6.904, P=0.127). Conclusions: The appropriate gender of 46, XY DSD patients was selected according to gonadal status after diagnosis. Regardless the diagnosis, the age of operation and the length of the penis at the first diagnosis, male patients were satisfied with the gender after the operation. A few of patients were inconsistent with the results of gender tendency scale test who were raised as girls or facultative children after birth, and they required sustained special attention. Some of the children showed natural adolescent development in males, and the prognosis may be ideal.

Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype.

The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.

PTH Modulation by Aldosterone and Angiotensin II is Blunted in Hyperaldosteronism and Rescued by Adrenalectomy.

CONTEXT: Accumulating evidence suggests a link between adrenocortical zona glomerulosa and parathyroid gland through mechanisms that remain unexplored. OBJECTIVES: To test the hypothesis that in vivo angiotensin II blockade affects PTH secretion in patients with hypertension and that aldosterone and angiotensim II directly stimulate PTH secretion ex vivo. DESIGN AND SETTING: We investigated the changes of serum PTH levels induced by oral captopril (50 mg) administration in patients with primary essential hypertension (EH) and with primary aldosteronism (PA) caused by bilateral adrenal hyperplasia (BAH) or aldosterone-producing adenoma (APA), the latter before and after adrenalectomy. We also exposed primary cultures of human parathyroid cells from patients with primary hyperparathyroidism to angiotensin II (10-7 M) and/or aldosterone (10-7 M). RESULTS: Captopril lowered PTH levels (in nanograms per liter) both in patients with EH (n = 63; 25.9 ± 8.3 baseline vs 24.4 ± 8.0 postcaptopril, P < 0.0001) and in patients with APA after adrenalectomy (n = 27; 26.3 ± 11.6 vs 24.0 ± 9.7 P = 0.021). However, it was ineffective in patients with full-blown PA caused by APA and BAH. In primary culture of human parathyroid cells, both aldosterone (P < 0.001) and angiotensin II (P = 0.002) markedly increased PTH secretion from baseline, by acting through mineralocorticoid receptor and angiotensin type 1 receptor, as these effects were abolished by canrenone and irbesartan, respectively. CONCLUSION: These results collectively suggest an implication of the renin-angiotensin-aldosterone system in PTH regulation in humans, at least in PTH-secreting cells obtained from parathyroid tumors. Moreover, they further support the concept that mild hyperparathyroidism is a feature of human PA that is correctable with adrenalectomy.

Transverse testicular ectopia associated with persistent Müllerian duct syndrome treated by transseptal orchiopexy: A case report.

RATIONALE: Persistent Müllerian duct syndrome (PMDS) is rare form of male pseudohermaphroditism characterized by the presence of uterus and fallopian tubes with normal external genitalia and secondary sexual characteristics. Transverse testicular ectopia (TTE) is also a rare form of testicular ectopia that may be associated with PMDS. PATIENT CONCERNS: We present a 2-year-old boy who presented with bilateral non-palpable testes with left inguinal mass. DIAGNOSIS: TTE with PMDS. INTERVENTIONS: On exploration, both testes were present in the left inguinal region. Uterus and fallopian tubes were located between the testes. A hysterectomy was perfomed with resection of the underdeveloped fallopian tubes. Bilateral orchiopexy was performed by placing both gonads into subdartos pouches in each scrotum with transseptal approach. OUTCOMES: Both testes were palpable in both the scrotum at 1-year postoperative follow-up and we are planning a regular follow-up. LESSONS: In case of TTE with PMDS, optimal surgical approach with orchiopexy and excision of Müllerian duct should be needed. A long-term postoperative follow-up is necessary for assessment of malignant transformation and infertility.

Robotic removal of Müllerian duct remnants in pediatric patients: our experience and a review of the literature.

Persistent Müllerian duct syndrome is a disorder of sexual development, which features a failure of involution of Müllerian structures. An enlarged prostatic utricle is a kind of Müllerian duct remnant (MDR) with a tubular shaped structure communicating with the prostatic urethra. Treatment is aimed at relieving symptoms when present, preserve fertility and prevent neoplastic degeneration. We describe 3 cases of successful robot assisted-removal of symptomatic MDRs. The first case came to our attention for pseudo-incontinence; the other two for recurrent urinary tract infections. The patients have not presented such symptoms anymore on follow-up. We then reviewed existent literature on authors who have recently investigated the main issues concerning MDRs and have attempted a roboticassisted approach on them. Robot-assisted laparoscopy can be considered a valid, safe and effective minimally-invasive technique for the primary treatment of prostatic utricle.

A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis.

Transverse testicular ectopia (TTE) is a rare form of ectopic testis observed in boys with a normal 46, XY karyotype. TTE can be associated with persistent Müllerian duct syndrome or other genital anomalies such as hypospadias. However, TTE concomitant with both persistent Müllerian duct remnants and hypospadias has never been reported in the literature. A case of chromosomal disorders of sex development with TTE and persistent Müllerian duct remnants, which was initially presumed to represent mixed gonadal dysgenesis, is presented.

[Persistent mullerian duct syndrome : Rare incidental finding during treatment of pediatric inguinal hernia]. / Das persistierende Müller-Gang-Syndrom : Ein seltener Zufallsbefund bei der Versorgung kindlicher Leistenhernien.

BACKGROUND: Persistent mullerian duct syndrome (PMDS) is a rare, autosomal recessive disorder. It is a form of male disorder of sexual differentiation in which mullerian duct structures are present in male phenotypes and 46XY karyotypes. In affected individuals, uterus, fallopian tubes, cervix and vagina are present. METHODS: A 2-month-old boy was admitted to hospital with a right-sided inguinal hernia. The physical examination showed a phenotypically normal boy with a right sided indirect inguinal hernia and impalpable testis. During herniotomy, a uterus and two fallopian tubes were found in the pelvic peritoneum adjacent to the two gonads. Initial biopsies were taken from the gonads and blood was sent for karyotyping. RESULTS: The biopsy showed normal testicular tissue without any ovarian tissue and the karyotyping result was 46XY; therefore, the diagnosis of persistent mullerian duct syndrome (PMDS) was made. In a second laparoscopically assisted operation the uterus and fallopian tubes were dissected, an orchidopexy of the left testis and an orchiectomy of the right testis were performed. The postoperative course was uneventful. CONCLUSION: In the case of an incarcerated inguinal hernia in combination with impalpable testis, a PMDS should be considered as a differential diagnosis.

Persistent mullerian duct syndrome: A 24-year experience.

BACKGROUND: Persistence of mullerian duct derivatives in otherwise normal male child is a very rare disorder. This may lead to diagnostic as well as management dilemma. MATERIALS AND METHODS: The medical record of 27 cases of persistent mullerian duct syndrome (PMDS) operated in three teaching hospitals more than a period of 24years is retrieved and analyzed for demography, clinical presentation, investigations, and treatment. RESULTS: There were a total of twenty seven male children with PMDS. The age was ranged between 3months and 19years. Ten patients presented with isolated bilateral UDT, six patients with bilateral UDT and unilateral inguinal hernia (4 left and 2 right sided inguinal hernia), and eight patients presented with right inguinal hernia and left sided UDT. Eight of 27 patients showed familial trends i.e. four pairs of brothers had PMDS in our series. In 21 patients, the diagnosis was made incidentally while operating for UDT and inguinal hernia. At operation 5 patients had female type of PMDS and 22 patients had male type PMDS. In 6 patients (male type), the PMDS was associated with transverse testicular ectopia. In 18 patients the initial operation was performed through inguinal incision with excision of mullerian remnants in the same settings in 12 patients. In 4 patients, straightforward laparotomy performed (familial cases) to excise mullerian remnants. In 5 patients, the PMDS was diagnosed on laparoscopy; initially biopsy of these remnants and gonads was done followed by excision of remnants by laparotomy approach. Biopsies taken from gonads in each patient revealed testicular tissue with variable degree of immaturity and dysplasia. The biopsy of mullerian remnants did not reveal any malignancy. All patients were genotypically male. CONCLUSION: Isolated undescended testes, left UDT and right inguinal hernia, bilateral UDT and unilateral inguinal hernia are the main presenting features of PMDS. About 30% of the patients showed familial tendency. Inguinal exploration for UDT or inguinal hernia, and laparoscopy for UDT reveal incidental findings of mullerian remnants. PMDS can be managed as single stage procedure however two stage procedure including gonadal biopsies in first stage followed by mullerian remnants excision and orchidopexy in the second stage can be opted if there is doubt about gonads and genotype.

Preservation of müllerian structures with laparoscopic management of intra-abdominal testes in persistent müllerian duct syndrome.

BACKGROUND: Laparoscopic management of remnant uterine structures for patients with persistent müllerian duct syndrome (PMDS) and bilateral intra-abdominal testes include supracervical hysterectomy or splitting of the uterine structure to facilitate orchiopexy. A laparoscopic uterine-sparing approach, however, has not been described in the literature. METHODS: We present a case of a 10-year-old male with PMDS who underwent laparoscopic two-step Fowler-Stephens orchiopexy (FSO) with uterine preservation. Diagnostic laparoscopy revealed bilateral intra-abdominal testes, a robust right vas deferens but diminutive left vas deferens, and a rudimentary uterine structure posterior to the bladder. At the time of the second-stage FSO, the decision was made to preserve the uterine structure to keep all future fertility options viable. A more extensive dissection was undertaken on the left side to gain adequate length for both testes to reach the scrotum and give the best chance for survival to the right testis with its accompanying robust vas deferens. CONCLUSION: Our case highlights a laparoscopic approach to a challenging problem in pediatric urology. If uterine preservation is preferred, a laparoscopic two-step FSO with uterine preservation is technically feasible and should be a consideration for patients with PMDS and intra-abdominal testes.