Max Gonsal Detective Series 1. Episode 1

 

Introduction by Speedy: This was prompted when I read Bora’s story about the wooden rod in his comment on Nihal’s radiology post. When Srianee sent me the story below, this detective idea came to my head. I welcome all Batch friends to contribute to this series. I have a feeling that this has the potential to draw in some amazing personal experiences. There is only one condition- they have to be true and have to be anonymised (patient and others involved apart from yours).

Series 1. Episode 1 Inaugural Contributor; Dr Srianee “Bunter” Fernando Dias

A MEDICAL MYSTERY - SOLVED!

In case you think that all we pathologists do is sit in a dingy basement office all day long looking at slides, I would like to share this story with you.  Our ‘detective work’ goes way beyond that! 

It seemed like any other day. It was late in the afternoon and the last batch of specimens had been delivered to the pathology lab from the operating room, as has been done umpteen times.  Our Pathology Assistant looking pretty bored and tired was examining the specimens and processing the tissues - we call it “grossing!” As she examined one of them, she suddenly became quite animated. She noticed something unusual and excitedly called me over to take a look.  The specimen container was labelled “strangulated hernia” and was from a 70 year old female patient, but the partially dissected specimen on the cutting table looked suspiciously like a small, fibrotic testicle! She said “Dr Dias, this looks like, well, like a small testicle”.  My immediate reaction was “The O.R. did it again and mislabeled a specimen!”.  Urgent phone calls were made to the operating room. A flustered nurse who had assisted in the surgery arrived to confirm the identity and verify that the specimen was indeed from a female patient. “This is not a mistake, all proper procedures were followed. This object admittedly not usually seen in women came from the patient. I can swear to that, or my name is not Emily”. As it happened it wasn’t Emily, she was Sarah but let’s not get distracted. The surgeon was also called and informed that we had something very strange going on, but that we needed to wait until the next day for confirmation of the tissue under the microscope. The surgeon was speechless but insisted that he was not careless. 

When the slides were ready the next day, our suspicions were confirmed.  It was clearly a fibrotic testicle with identifiable atrophic seminiferous tubules.  “What was going on?” I said to myself as there was nobody with me at the time. 

I told the surgeon that this patient may have testicular feminisation syndrome. He retorted huffily “Impossible!  She is happily married and has not one but three children”. He gave me that “look”, “is she balmy?” I then appealed to her primary care physician, who also happened to be the Chief of Medicine, who was definitely more receptive. I coaxed him to do a buccal smear to look for Barr-bodies, the simplest way to confirm if the patient was indeed genetically female.  The buccal smear, however, was devoid of Barr-bodies, confirming our suspicions that the patient was genetically male. 

Where do we go from here? The mystery had to be solved. Now it was up to the Chief of Medicine to delve into the history and get the facts. He spoke to the patient privately and gently explained our findings.  He was quite moved by her response, he told me later. She broke down in tears and confessed to him that she had faked her menstrual cycles after marriage.  She had consulted a ‘specialist’ at some point in her life and had been told that she would never have children, but that was all. Her children were all adopted, and she and her husband had been happily married for over 40 years.  Apparently, two of her sisters had a similar history. 

Patients with this syndrome, called complete androgen insensitivity syndrome (testicular feminisation) are genetically male (XY) but because of abnormalities in the X chromosome are resistant to androgens, so the male genitalia do not develop normally.  They are phenotypically female, with normally developed breasts and are usually lean and attractive, and are raised as girls.  They have short vaginas, but no uteri or ovaries.  It occurs in one out of 20,000 births and can be incomplete with ambiguous external genitalia or complete as in our patient.  The testes are undescended and prone to develop malignancies.  When a diagnosis is made a bilateral orchiectomy needs to be performed.  Our patient was lucky that she did not develop any malignancy. 

I believe our patient never divulged her diagnosis to her husband (they were in their 70s at the time). I found out later that she had returned to the emergency room with a strangulation of the hernia on the other side and had successful surgery.  The surgeon and her primary care physician had both remarked on the couple’s great relationship and made me wonder about the compatibility of two XY individuals versus an XX and XY pair!

It makes one wonder, doesn’t it?! 

In retrospect, I realize that in the pursuit of answers we could have completely disrupted this patient’s relatively calm and happy life. I don’t believe anyone in the Department of Medicine explained to her why a buccal smear was being done.  If that had happened she could have declined, and we would not have been able to back up our suspicions. We may have crossed some ethical boundaries at the time, which would not be possible nowadays. 

Thankfully for all concerned the Chief of Medicine handled the problem well, and her condition remained “her secret.”