Submited on: 30 Dec 2012 03:45:11 PM GMT
Published on: 31 Dec 2012 06:26:05 PM GMT
 
Review on
Posted by Prof. Kulvinder K Kaur on 28 Feb 2013 06:53:24 AM GMT

  • What are the main claims of the paper and how important are they?

    This is a case report of a 24 yr old patient reared as a female presenting with primary amenorrhea and ultimately diagnosed as a case of partial androgen insensitivity syndrome for whom bolateral orchidectomy,neovagina was created and after 3 months of vaginoplasty using amnion and further estrogen therapy she got married with histopathology not revealing any malignancy.The findings are nothing new with text books labelling all, partial insensiticity syndromes as reifenstein syndrome-Clinical gynaecological endocrinology and infertility with leon speroff and fritz MA as editors page340.Further the authors have not given the height of the patient which is expected to be higher considering she has reached 23 yrs without gonad removal and no effort has been done to find which mutation of androgen receptor caused it and family history although mentioned NAD doesnt specifically look for any such AR mutations in families -it being an X linkes disorder.


  • Are these claims novel? If not, please specify papers that weaken the claims to the originality of this one.

    No-lATEST PAPERS besides speroffs text book of clinical gynaecolgical endocrinology and metabolism 17th &18th edition- in 17th edition(18th being indian one-374-376.)editOrs Speroff L,Fritz MA2005;340-342.2)Neives Veiga Jr et al -Clinical and laboratory feautures that may differentiate 46XYDSD due to partial androgen insensitivity and 5alpha reductase type 2(ARDT2) deficiency.Int J Endocrinol 2012;2012:article id964876,7pages where highlights main D/D for XY kayotype,ambiguous grnitalia with normal testosterone secretionand normal mullerian duct regression is PIAS or 5ARDT2-in general indistinguishable sp if no family h/o consanguinity-going with 5ARDT2,OS F/H of X linked inheritance for PIAS-STILL 30-40%CASES OF 46XYDSD no genetic cause found and maybe due to reduced prenatal growth.3)Andrade FP,Cabrebra PM,Caceres F,Gil B,Rodriguez-Barbero M,Angulo JC.Umbilical keyport bilateral laporoscopic orchiectony in patient with complete androgen insensitivity syndrome.Challenging Clinical Cases 2012;38:695-700-where besides songle port umbilical orchidectomy for no scar AR gene mutation specified on Xq11-12.4)Joseph AA,Kulshreshtha B,Mehta M,Ammimi AC.Sex of rearing to exert powerful influence on gender identity in the absence of strong hormonal influence:report of two siblingswith PIAS asigned different sex of rearing.J Pediatr Endocrinol Metab 2011;24:1071-1075.5)Massin N,Bry H,Vija L,,et al.Healthy baby after testricular extraction of sperm and ICSI from an azoospermic man with mild AIS caused by an androgen receptor partial loss mutation.Clin Endocrinol 2012;77:593-598.


  • Are the claims properly placed in the context of the previous literature?

    Yes


  • Do the results support the claims? If not, what other evidence is required?

    Yes but a mutation of androgen receptor would add some weightage to the paper.


  • If a protocol is provided, for example for a randomized controlled trial, are there any important deviations from it? If so, have the authors explained adequately why the deviations occurred?

    Its a case report only


  • Is the methodology valid? Does the paper offer enough details of its methodology that its experiments or its analyses could be reproduced?

    Its just a case report


  • Would any other experiments or additional information improve the paper? How much better would the paper be if this extra work was done, and how difficult would such work be to do, or to provide?

    Performing FISH to reveal the presence of SRY gene on short arm of Y chromosome Yp11.3 and the presence of AR gene on chromosome Xq11-12 AND THEN automated sequencing of AR gene to show the causative mutation-since the authors work in a medical college it should not be difficult to achieve


  • Is this paper outstanding in its discipline? (For example, would you like to see this work presented in a seminar at your hospital or university? Do you feel these results need to be incorporated in your next general lecture on the subject?) If yes, what makes it outstanding? If not, why not?

    No


  • Other Comments:

    Although most patients of PIAS are infertile previously one case of fertility had been reported in apatient reared up as a male,while the secind case conceived with ICSI with MILD PIAS,hence although testicular tumours are very frequentone should delay surgery as late since they dont develop very early and secind is the importance odf defferentiating PIAS ans simple 5alpha reductase at birth as both appear similar and yet if it is PIAS sex of rearing should be a female while in 5ART2 feficiency important to rear as males as reversible with androgens in almost 70%of such individuals.Although it has been shown in absence of sexsteroid action even in PIAS it is sex of fearing which affects psychology as shown by 2 siblings and females reared up face sexual problems in any case.

  • Competing interests:
    None
  • Invited by the author to review this article? :
    No
  • Have you previously published on this or a similar topic?:
    No
  • References:
    None
  • Experience and credentials in the specific area of science:

    Have been dealing with gynaecological endocrinology for the last 30 yrs and encountered a girl with ambiguous genitalia who turned out to be a case of congenital adrenal hyperplasia and i refashioned her external genitalia to decrease the virilism and then she conceived with dexamethasone therapy.such case are rare and different cases of primary amenorrheas i have encountered but not PAIS.although have run the gynae endocrine clinic in PGIMER.

  • How to cite:  Kaur K K.Review on [Review of the article 'Partial Androgen Insensitivity Syndrome- XY Female (Male Pseudohermaphroditism) ' by Gupta M].WebmedCentral 2012;4(2):WMCRW002547
1 2 3 4 5 6 7 8 9
Report abuse
 
Case Presentation
Posted by Dr. Mohammad Othman on 31 Dec 2012 08:58:20 PM GMT

  • What are the main claims of the paper and how important are they?

    No claims, this is a case presentation with minimal discussion.


  • Are these claims novel? If not, please specify papers that weaken the claims to the originality of this one.

    No claims to find out if it is novel or not.


  • Are the claims properly placed in the context of the previous literature?

    no claims.


  • Do the results support the claims? If not, what other evidence is required?

    This is a case presentation were the results are the treatment of the patient.


  • If a protocol is provided, for example for a randomized controlled trial, are there any important deviations from it? If so, have the authors explained adequately why the deviations occurred?

    No protocol, this is case presentation.


  • Is the methodology valid? Does the paper offer enough details of its methodology that its experiments or its analyses could be reproduced?

    No methodology, this is a case presentation.


  • Would any other experiments or additional information improve the paper? How much better would the paper be if this extra work was done, and how difficult would such work be to do, or to provide?

    yes, detailed discussion with comparison to previous papers would make big difference.


  • Is this paper outstanding in its discipline? (For example, would you like to see this work presented in a seminar at your hospital or university? Do you feel these results need to be incorporated in your next general lecture on the subject?) If yes, what makes it outstanding? If not, why not?

    Good paper but not outstanding.


  • Other Comments:

    Good case presentation but needs comparison with other papers on the same subject.

  • Competing interests:
    None
  • Invited by the author to review this article? :
    No
  • Have you previously published on this or a similar topic?:
    No
  • References:

    No

  • Experience and credentials in the specific area of science:

    Consultant, Author and refree of Obstetrics and Gynaecology

  • How to cite:  Othman M .Case Presentation[Review of the article 'Partial Androgen Insensitivity Syndrome- XY Female (Male Pseudohermaphroditism) ' by Gupta M].WebmedCentral 2012;3(12):WMCRW002425
1 2 3 4 5 6 7 8 9
Report abuse