Disorders of Sexual development Current Status and Progress in Diagnostic Approach

Dear All,

There are several aspects of Urology where we seldom give attention. Disorders of Sexual Development is one such. It may because, except for surgical corrections when needed of the genital organ, Urologists seldom involve themselves in the diagnosis of DSD.

For the trainees in the group, this is an important topic and asked during your exit exam. A reasonable knowledge is expected.

I am providing an article which addresses most of what we have to know and more concerning DSD. The article does not devote on management which you may have to read somewhere else.


With warm Regards,




  • Dr. Anil Takvani
    Dr. Anil Takvani
    03 Feb 2020 02:08:00 PM

    Dear All,

    14 year old patient identifying as female since birth.
    Played with girls.
    Schooling with girls.
    Clothes and toys of girls.
    Voiding in squatting position
    No menstruation
    Recent voice change
    What are possible diagnosis and how to investigate?

  • Rahul Kapoor
    Rahul Kapoor
    04 Feb 2020 07:50:17 AM


    Its true that our knowledge and interest in less in managing these patients. 
    But these are very interesting cases. 
    In this case we can see both testis. Phallus is poorly developed.
    I will first do USG abdomen, hormonal assay. 
    Karyotyping will give us the final direction to move in. 
    Partial androgen insensitivity syndrome , 5 a reductase deficiency (penis at 12 syndrome) will be probable cause. 
    I would also like to involve a endocrinologist in such cases. 

  • Dr. Anil Takvani
    Dr. Anil Takvani
    04 Feb 2020 10:23:46 AM

    Dear Rahul, 

    First of all I would like to congratulate you for providing most appropriate differential diagnosis. 
    Chromosome : 46 XY
    hormones :increased T/ DHT ratio 
    Testosterone : 470ng/dL
    DHT :16bg/dL
    Rest hormones within normal range 
    USG Pelvis  : Normal , no internal female structures

    What next? 

  • Dr. Anil Takvani
    Dr. Anil Takvani
    04 Feb 2020 06:13:50 PM

    How to differential 

    Partial androgen insensitivity syndrome
    5 alpha reductase deficiency?
    I think very difficult, would like to know from experts...

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