Reviewer ’s report  
 
Title: Rare genital malformations in women's health research: sociodemographic, regional, and 
disease related characteristics of patients with Mayer -Rokitansky -Küster -Hauser syndrome  
 
Version: 1 Date: 13 Jul 2018  
 
Reviewer: Research Square Reviewer 1  
 
Reviewer's report : 
 
"PEER REVIEWER COMMENTS: To view the full report from the academic peer reviewer, 
please see the attached file.  
 
REVIEWER COMMENTS FROM REPORT: Major comments  
The authors present a study on the socio -economical demographics of patients displaying MRKH 
syndrome. Even though the study includes a lot of patients, the overall aim is futile; this disease 
is genetic in origin, and thus it will not have any socio -econo mic factors associated with it. For 
example, heart disease may be influenced by nutritional factors, familial factors, or life -style 
factors. However, for MRKH syndrome, it has been clearly established that this disease is 
genetic in origin and has no rela tionship with social or economic factors. Further, clinical 
imaging should be performed to confirm the diagnosis of MRKH.  
 
If the authors are considering renal abnormalities then they have to take into consideration that 
there are two types of MRKH syndrom e: 
Type I - Only reproductive organs are defective or missing  
Type II - In addition to reproductive abnormalities, patients may have (i) issues with the kidneys, 
(ii) facial asymmetry or spinal deformity, and (iii) hearing loss. Please refer to Patnaik et al. 
Mayer -Rokitansky -Küster -Hauser (MRKH) syndrome: A historical perspective, Gene 2015.  
 
The association with family members was in fact the highlight of the study (Figure 1), as siblings 
and offspring are more likely to suffer from the same defects. Even  though the education level 
and location attributes were different across the groups, they have little significance to the 
treatment or diagnosis procedure. For the medical intervention, it was interesting to observe that 
hormonal treatment was applied.  
 
Minor comments   
Pg 2 Line 44 -47 - Sentences are unclear. Description of the burdens is missing and hence appears 
vague to the reader.  
Table 3 - It is a reiteration of the same data. It is completely unnecessary  
 
Overall, this study lacks a central hypothe sis, planning and execution.  
 
 
 
 
 
REQUESTED REVISIONS:  
 
1. Better hypothesis for the study  
 
2. Better criterion for diagnosis  
 
3. Better family history or pedigree  
 
4. Intervention or clinical mediation that can improve the quality of life experienced by MRKH 
patients  
 
5. Better treatment or diagnosis regime  
 
Unless the authors address any or all of the above concerns, the manuscript will not be accepted 
by the clinica l audience.  
" 
 
 
Are the  methods appropriate and well described?  
If not, please specify what is required in your comments to the authors.  
 
No 
 
Does the work include the necessary controls?  
If not, please specify which controls are required in your comments to the authors.  
 
No 
 
Are the conclusions drawn adequately supported by the data shown?  
If not, please explain in your comments to the authors.  
 
No 
 
Are you able to assess any statistics in the manuscript or would you recommend an  
additional statistical review?  
If an additional statistical review is recommended, please specify what aspects require further  
assessment in your comments to the editors.  
 
Not relevant to this manuscript  
 
Quality of written English  
Please indicate the quality of language in the manuscr ipt: 
 
Acceptable  
 
 
Declaration of competing interests  
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4. Have you received reimbursements, fees, funding, or salary from an organization that 
holds or has applied for patents relating t o the content of the manuscript?  
5. Do you have any other financial competing interests?  
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recommendation.  
 
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