Diagnosis: Mild Androgen Insensitivity Syndrome
He came under his own volition for assessment of the possible mild form of androgen insensitivity syndrome. I note that he has had an extensive workup in Sheffield and to summarise these findings, he has high normal or slightly raised testosterone concentration and slightly raised serum LH concentrations. His adrenal function is normal as determined by a synacthen test and a single measurement of dihydrotestosterone was slightly raised.
On examination, his secondary sex characteristics are normal although he feels that his body hair is reduced and his breast tissue is slightly prominent. His testicular volume and consistency is normal.
His symptoms are complicated and not all of them may be related to his testosterone axis. He has longstanding erectile dysfunction and depression and both of these features improved during a nine month self treatment with testosterone enanthate. His background anxiety disorder and his all over bodybuild, however, may not be closely related. He reports having various diagnoses for anxiety related disorders and has recieved a variety of antidepressants, none of which appear to offer any benefit. For his erectile dysfunction the Viagra family of treatments have offered no benefit.
I think the combined finding of raised testosterone and LH concentrations taken together with his high normal SHBG and HDL cholesterol are all indicative of a ,mild form of the androgen insensitivity syndrome. His clinical presentation however, is atypical as mood disorders are not over prominent in the complete form of AIS.
I would be happy to recommend a return of treatment with testosterone and for this I would initiate Sustanon 250 mg every three weeks by intramuscular injection. Prior to starting treatment it would be helpful to have a semen analysis, as a low sperm count can be a side effect of mild androgen insensitivity syndrome and it will be important to quantify this before starting treatment, which could possibly suppress sperm production further.
Depending on his future plans it might be worth considering a referral to clinical genetics for sequencing of the androgen receptor. Although the pickup rate in mild androgen insensitivity syndrome is quite low, it will be important to be thorough about the risk of transmitting androgen. He has no brothers and so we really are unable to evaluate his family tree fully.
Lastly, it might be helpful to have an androgen specialist more local to him and there happens to be an international expert in Hugh Jones, based both at Sheffield and Barnsley.
In summary, I would be happyto support further treatment with testosterone in the form of Sustanon by three weekly injections. He should be monitored with full blood count and prostate specific antigen at six monthly intervals during stabilisation of this treatment. The treatment goals will be based mainly on his symptoms and this might make titrating the dose slightly difficult. The reason for this is that his symptom profile is atypical and there are many aspects of his presentation that may not be responsive to testosterone treatment.
I would be pleased to answer any queries that may arise from this report.
Yours sincerely
Dr. Gerard Conway MD, FRCP
Consultant Endocrinologist
He came under his own volition for assessment of the possible mild form of androgen insensitivity syndrome. I note that he has had an extensive workup in Sheffield and to summarise these findings, he has high normal or slightly raised testosterone concentration and slightly raised serum LH concentrations. His adrenal function is normal as determined by a synacthen test and a single measurement of dihydrotestosterone was slightly raised.
On examination, his secondary sex characteristics are normal although he feels that his body hair is reduced and his breast tissue is slightly prominent. His testicular volume and consistency is normal.
His symptoms are complicated and not all of them may be related to his testosterone axis. He has longstanding erectile dysfunction and depression and both of these features improved during a nine month self treatment with testosterone enanthate. His background anxiety disorder and his all over bodybuild, however, may not be closely related. He reports having various diagnoses for anxiety related disorders and has recieved a variety of antidepressants, none of which appear to offer any benefit. For his erectile dysfunction the Viagra family of treatments have offered no benefit.
I think the combined finding of raised testosterone and LH concentrations taken together with his high normal SHBG and HDL cholesterol are all indicative of a ,mild form of the androgen insensitivity syndrome. His clinical presentation however, is atypical as mood disorders are not over prominent in the complete form of AIS.
I would be happy to recommend a return of treatment with testosterone and for this I would initiate Sustanon 250 mg every three weeks by intramuscular injection. Prior to starting treatment it would be helpful to have a semen analysis, as a low sperm count can be a side effect of mild androgen insensitivity syndrome and it will be important to quantify this before starting treatment, which could possibly suppress sperm production further.
Depending on his future plans it might be worth considering a referral to clinical genetics for sequencing of the androgen receptor. Although the pickup rate in mild androgen insensitivity syndrome is quite low, it will be important to be thorough about the risk of transmitting androgen. He has no brothers and so we really are unable to evaluate his family tree fully.
Lastly, it might be helpful to have an androgen specialist more local to him and there happens to be an international expert in Hugh Jones, based both at Sheffield and Barnsley.
In summary, I would be happyto support further treatment with testosterone in the form of Sustanon by three weekly injections. He should be monitored with full blood count and prostate specific antigen at six monthly intervals during stabilisation of this treatment. The treatment goals will be based mainly on his symptoms and this might make titrating the dose slightly difficult. The reason for this is that his symptom profile is atypical and there are many aspects of his presentation that may not be responsive to testosterone treatment.
I would be pleased to answer any queries that may arise from this report.
Yours sincerely
Dr. Gerard Conway MD, FRCP
Consultant Endocrinologist
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