De La Chapelle Syndrome: Clinical and Physical Performance Implications
, Paola Malatesta 3, Emanuela Alessandra Greco 4,†and Antonio Aversa 1Round 1
Reviewer 1 Report
Comments and Suggestions for AuthorsPlease see the attached review.
Comments for author File: 
Comments.pdf
Author Response
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Author Response File: Author Response.pdf
Reviewer 2 Report
Comments and Suggestions for AuthorsThis is a straight forward case report about a patient with 46,XX testicular disorder of sex development, also known as De La Chapelle syndrome.
Comments:
1) Although this is a rare disorder, there is nothing specially significant or unusual with this case. What distinguishes this case from other reported cases?
2) The minimum requirement to support the diagnosis is the FISH analysis. The authors only show the 46,XX karyotype, which is not at all interesting. This should be replaced by an image of the FISH showing the presence of the SRY locus translocated to the X chromosome.
3) Lab values are presented without reference intervals. These need to be added, as it is not expected that readers are familiar with normal values used in the institution. Also, decimal values should be represented by a full stop symbol rather than a comma.
4) How do you explain the hyperestrogenism? Is this usual in this disorder?
5) How did the boy undergo puberty (Tanner 4) with testicular atrophy and hypogonadism?
6) It would be useful to discuss more about the pathogenesis. This would perhaps make the report more educational. How does the SRY translocation cause the male phenotype, despite the apparent female karyotype? A figure depicting the relevant pathways of sex differentiation might help.
7) Language should be revised, particularly for technical terms.
Abstract - genotypization, is an inadequate term.
line 43 –hypotrophy should be replaced by atrophy
line 60 –feminine to female
line 80 - Gonal to gonadal
line 90 - IB is very low (use past tense or review the sentence)
line 114 especially when adequate TRT is warranted. The word warranted does not make sense. Perhaps the authors mean when adequate TRT is not provided.
Comments on the Quality of English Language
Minor editing of English language required
Author Response
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Author Response File: Author Response.pdf
Round 2
Reviewer 1 Report
Comments and Suggestions for AuthorsPlease find my comments below.
Height- please present also SD value.
The patient started therapy with transdermal testosterone gel- should be included in the text, with the dose.
For this reason, we conclude that physical performance of these patients should be investigated more extensively before initiating replacement therapy to give the right expectations on its efficacy to these difficult-to-treat patients.- I would recommend deleting the last part.
Comments on the Quality of English LanguageExtensive editing of English language required
Author Response
Please see the attachment
Author Response File: Author Response.pdf
Reviewer 2 Report
Comments and Suggestions for AuthorsAll issues were adequately addressed.
Author Response
We thank the reviewer for improving our manuscript
