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Dr. Andrew Rynne

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4 years old have closed vagina, developed breast buds and diagnosed with gigantism. Any solution?

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Dr. Rajiv K Khandelwal

Pediatrician

Practicing since :1976

Answered : 1872 Questions

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Posted on Mon, 10 Dec 2012 in Child Health
Question: 4 year olds clitoris has disappeared. she developed breast buds and breast tissue (confirmed by pediatrician) a few weeks ago. 1.5 years ago her vaginal opening had closed, we applied hormone cream at that time to reopen. The opening has closed yet again, Diagnosed with Gigantism 2 years ago. Any clue whats going on
doctor
Answered by Dr. Rajiv K Khandelwal 2 hours later
Hi,

Thank you for your query.

I appreciate your concern but would like to know more facts before I will be in a position to provide any suggestions:
1. Chronological order of events noted
2. Status of various organs and the changes that took place over the years and clinical notes of the case
3. Any investigations performed and their results, preferably in a chronological order
4. Any treatment given to control gigantism after finding its cause

If your daughter has been diagnosed with gigantism then an hormonal work-up must have been done which will explain a number of features that you have mentioned. You will appreciate that this platform cannot clear all your doubts as examination of the case is not possible but I shall try to help you with the limitations which you will appreciate.

You may use the facility available on this site to upload the details I have asked for me to review.

I hope I have satisfactorily responded to your query. Please feel free to share any information that you may wish to share regarding the case.

Regards,

RKK
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Follow up: Dr. Rajiv K Khandelwal 28 minutes later
2008 Born @36 weeks 6lbs 6oz. Juandice sent home at 3days old. lost weight at first and failed to gain at standard rate was put on high clorie formula for 1st year. @ 4 months hospitalized for dehydration and Gerd. normal size and growth by 18 months and at 2years. @ 26 months came down with Strep and croup battled that for next 12 months until tonsils removed at 35 months between 24 months and 30 months grew 7 inches weight gain about 10 lbs@30months blood work was done everything normal but IGF1 was 354 MRI of brain @ 2yr 9 months and 4 years 8month were normal no signs of pituitary tumor. Bone age @ 2 yrs 9 months = 3yr 8mo Bone age @ 3yr 11mo = 5 yr 9 month. Currently she is 4 yrs 10 months 52" tall 85lbs. There have been no tests other than blood work and the MRI 's to find cause. Not so worried about the gigantism as I am about what her body is doing now and the fact that 3 months ago she was perfectly formed in the genital region and now there is no sign of a clitoris and the vaginal opening is now almost closed again. She has 2 endocronologist a gastroenterologist and an ENT plus her pediatrician as I stated outside of blood work that is always normal except for the IGF1 the bone age x-ray and MRIx2 no one has done any testing on the gigantism. . I am concerned about the possibility that she may have congenital adrenal hyperplasia causing this change in her genitalia. She is so closed at this point she is pulling herself open just to urinate. IDEAS?
doctor
Answered by Dr. Rajiv K Khandelwal 46 minutes later
Hi,

Thank you for the update.

In my opinion you need to discuss with your team of doctors and get the following investigations done:
1. Growth hormone levels
2. Oestrogen, progesterone levels
3. Testosterone levels
4. Cortisol levels
5. Mineralocorticoids levels
6. Chromosomal analysis
Without a complete hormonal profile it will be difficult to come to a conclusion.

Congenital adrenal hyperplasia (CAH) is very unlikely as it will cause other problems too. In girls it will cause virilization in which clitoris will enlarge and not disappear. It is very unlikely for the labial folds to close after birth in CAH.

As your daughter has gigantism and is physically growing, the clitoris will appear relatively smaller which must be giving you a feeling of its disappearance.

I hope I have answered your query to your satisfaction.

Regards,

RKK
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Rajiv K Khandelwal 8 minutes later
I am so glad I could waste my time and resources dealing with you. Honestly you should have responded with major concern about the fact that the child is ripping herself apart just to urinate and yet there was no mention that she should be seen for this issue. You latched onto the rarest condition that she has and tried to run with it when it had nothing to do with my question and the fact that she is being followed both at Duke University and the University of XXXXXXX I came her because of her genitalia issues. Then you insult me by saying I am seeing things essentially . When I say disappeared I mean the clitoris has disappeared there is nothing more that a bump the size of a very small pimple now. Congratulations you won the prize of being just another man with a medical degree that obvioulsy doesnt even realize how important it is and what all the health risks involved when a womans urinary tract is closed off. Did you get your degree out of a cracker XXXXXXX box?
doctor
Answered by Dr. Rajiv K Khandelwal 9 minutes later
Hi,

Thank you for your comments.

I understand your concern. However, I would like to reiterate what I mentioned in my initial post:
"You will appreciate that this platform cannot clear all your doubts as examination of the case is not possible"

You certainly had some concerns which I tried to address from the information your provided. When doctors and specialists managing your daughter at Duke University and University of XXXXXXX have not been able to address your concerns you can understand the limitations of remote assistance.

Regards,

RKK
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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