Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

Aw, Lin Da; Zain, Murizah Mohd; Esteves, Sandro C.; Humaıdan, Peter

doi:10.1590/s1677-5538.ibju.2016.0225

Cited by 12 publications

(9 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Imaging of the pelvis is required to look for remnants of mullerian ducts that may cause morbidity in the form of repeated infections or hematuria and require surgical removal ( 19 , 20 ). Differential diagnosis with other genetic conditions such as Persistent Mullerian Duct Syndrome in which virilization is achieved despite having low testosterone levels may be a challenging issue in some clinical presentations.…”

Section: Discussionmentioning

confidence: 99%

Ten cases with 46,XX testicular disorder of sex development: single center experience

et al. 2017

View full text Add to dashboard Cite

Objective To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic.Cases and Methods Records of the cases who were admitted to our infertility clinic between 2004 and 2015 were investigated. Ten 46,XX testicular disorder of sex development cases were detected. Clinical, hormonal and chromosomal assessments were analized.Results Mean age at diagnosis was 30.4, mean body height was 166.9cm. Hormonal data indicated that the patients had a higher FSH, LH levels, lower TT level and normal E2, PRL levels. Karyotype analysis of all patients confirmed 46,XX karyotype, and FISH analysis showed that SRY gene was positive and translocated to Xp. The AZFa, AZFb and AZFc regions were absent in 8 cases. In one case AZFb and AZFc incomplete deletion and normal AZFa region was present. In the other one all AZF regions were present.Conclusion Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility work-up. Although these cases had no chance of bearing a child, they should be protected from negative effects of testosterone deficiency by replacement therapies.

show abstract

Section: Discussionmentioning

confidence: 99%

Ten cases with 46,XX testicular disorder of sex development: single center experience

et al. 2017

View full text Add to dashboard Cite

show abstract

“…In particular, these patients usually present for evaluation at later stages of sexual development, and a comprehensive clinical and laboratory evaluation is not always possible, as discussed below. Notably, as reasoned in our paper ( 2 ) and highlighted here, a multi-disciplinary team approach is essential to handle such conditions.…”

mentioning

confidence: 79%

“…Dr. de Jesus in his elegant commentary on our recent published article in the Int Braz J Urol ( 1 ) dwelled on the diagnosis challenges about patients with disorders of sexual differentiation (DSD) ( 2 ). Indeed, we appreciate and agree with his comments that given the rarity of this condition the differential diagnosis between Persistent Mullerian Duct Syndrome (PMDS) and other DSD, including mixed gonadal dysgenesis (MGD), represents a challenge for clinicians ( 3 ).…”

mentioning

confidence: 99%

REPLY BY THE AUTHORS: Re: Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

Zain

Esteves³

et al. 2017

Int. braz j urol.

Self Cite

View full text Add to dashboard Cite

“…Case scenarios are commonly used in medical literature to report a particular clinical condition or contextualize a situation hoping for better comprehension ( 247 , 248 ). Although the use of clinical scenarios to illustrate a point may not apply to a slightly different scenario ( 54 ), Agarwal and colleagues utilized this method in their CPG ( 20 ) to personalize a message giving it a clinical perspective ( 90 ).…”

Section: Discussionmentioning

confidence: 99%

A Strengths-Weaknesses-Opportunities-Threats (SWOT) analysis on the clinical utility of sperm DNA fragmentation testing in specific male infertility scenarios

Esteves¹,

Agarwal

Cho

et al. 2017

Transl. Androl. Urol.

Self Cite

View full text Add to dashboard Cite

BackgroundSperm DNA fragmentation (SDF) is recognized as a leading cause of male infertility because it can impair the paternal genome through distinct pathophysiological mechanisms. Current evidence supports SDF as a major factor in the pathophysiology of several conditions, including varicocele, unexplained infertility, assisted reproductive technology failure, and environmental lifestyle factors, although the mechanisms involved have not been fully described yet. Measurement of the levels of DNA fragmentation in semen provides valuable information on the integrity of paternal chromatin and may guide therapeutic strategies. A recently published clinical practice guideline (CPG) highlighted how to use the information provided by SDF testing in daily practice, which triggered a series of commentaries by leading infertility experts. These commentaries contained an abundance of information and conflicting views about the clinical utility of SDF testing, which underline the complex nature of SDF.MethodsA search of papers published in response to the CPG entitled “Clinical utility of sperm DNA fragmentation testing: practice recommendations based on clinical scenarios” was performed within the Translational Andrology and Urology (TAU) website (http://tau.amegroups.com/). The start and end dates for the search were May 2017 and August 2017, respectively. Each commentary meeting our inclusion criteria was rated as “supportive without reservation”, “supportive with reservation”, “not supportive” or “neutral”. We recorded whether articles discussed either SDF characteristics as a laboratory test method or clinical scenarios, or both. Subsequently, we extracted the particulars from each commentary and utilized the ‘Strengths-Weaknesses-Opportunities-Threats’ (SWOT) analysis to understand the perceived advantages and drawbacks of SDF as a specialized sperm function method in clinical practice.ResultsFifty-eight fertility experts from six continents and twenty-two countries contributed commentaries. Overall, participants (87.9%; n=51) were supportive of the recommendations provided by the CPG on the utility of SDF testing based on clinical scenarios. The majority of participants made explicit remarks about both the clinical scenarios and SDF assays’ characteristics. Among ‘not supportive’ and ‘supportive with reservation’ participants, 75% (n=30/40) and 77.5% (n=31/40) expressed concerns related to technical limitations of SDF testing methods and clinical utility of the test in one or more clinical scenarios discussed in the CPG, respectively. The SWOT analysis revealed that the CPG provides a reasonable evidence-based proposal for integration of SDF testing in the routine daily practice. It also uncovered gaps of knowledge and threats limiting the widespread application of SDF in everyday practice, thus allowing the identification of opportunities to further refine SDF testing and its clinical utility.ConclusionsThe understanding of the role of SDF in male infertility requires an in-depth analysis of the multifactorial pat...

show abstract

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

Cited by 12 publications

References 34 publications

Ten cases with 46,XX testicular disorder of sex development: single center experience

Ten cases with 46,XX testicular disorder of sex development: single center experience

REPLY BY THE AUTHORS: Re: Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

A Strengths-Weaknesses-Opportunities-Threats (SWOT) analysis on the clinical utility of sperm DNA fragmentation testing in specific male infertility scenarios

Contact Info

Product

Resources

About