Gender Dysphoria: A Journey Through Rare Disorders

Disorder of Secondary Sexual Characteristics?

Hello Dr.
Hou,
I am a 40-year-old male, but life has played a trick on me, as my physique is almost feminine (a normal triangle shape rather than the male inverted triangle).
This means I have some female characteristics; for instance, while normal boys experience an expansion of the thoracic skeleton during puberty, I did not go through this stage at all.
Instead, my pelvis has widened, and my fat distribution is closer to that of a female, with a very rounded and full lower body and a slimmer upper body.
Additionally, my skin is delicate and smooth like that of a woman.

However, strangely, I am not completely feminized.
I am over 170 cm tall, my voice is normal, I have a thick beard and leg hair, and I have normal male sexual function.
I have a ten-year-old son, which is also a source of my anxiety.
As my son grows older, I have noticed something is amiss, as he seems to be developing a physique similar to that of a girl.
Since my own puberty, I have had to endure the strange looks from others, and I have lived my life by hiding behind loose clothing (I avoid swimming or soaking in hot springs), which has been very difficult.
I cannot let my son go through this kind of life, so I am determined to see a doctor to find out what my issue is.
However, things have not gone smoothly.
I visited an endocrinologist, and after blood tests, the results indicated that my male hormone levels are normal.
Yet, I cannot feel happy about this, as I am certain my physical characteristics are abnormal, but nothing shows up in the tests.
I speculate that although my male hormone secretion is normal, there must be a problem somewhere in the system.
Could there be an issue with the endocrine system in a specific area? Or is there a part of my body that is not responding to male hormones? I even wonder if I might have a set of female organs and gonads producing female hormones, leading to this confusion.
In short, I am truly at a loss.
Today, I discovered this website, which has rekindled my hope.
I know that you, Dr.
Hou, are an excellent physician in genetics.
I have considered making an appointment with you, but I am unsure if I can see you at a children's hospital at my age.
I hope you can tell me what might be the cause of my abnormalities and what my next steps should be.
I am not afraid to see a doctor; I am willing to undergo any tests, but despite my willingness, doctors have been unable to identify the problem, and I feel very helpless.
After realizing that my son might be similar to me, I feel as if a heavy stone is pressing on my chest every day, and I must race against time to uncover my issues, as my child is approaching puberty.
My thought is that I must first identify my true problem before taking my child for an examination, as knowing the cause can reduce the number of tests and the time involved for him.
After all, I do not want these processes and certain words to leave a shadow in his heart.
I hope you can advise me on what my next steps should be.
Thank you very much!

HSING, 40~49 year old female. Ask Date: 2008/06/21

Dr. Hou Jiawei reply Rare Disease

Secondary sexual characteristics and body changes are initiated with sexual development; however, boys can also secrete small amounts of estrogen, and girls can secrete small amounts of androgens.
As a result, some girls may experience denser body hair and fine, light-colored hair around the lips after puberty, resembling male facial hair, due to higher levels of androgens.
Nevertheless, as development continues, hormone levels tend to stabilize.
Similarly, some boys may have a higher-pitched voice, similar to that of girls, which can also be attributed to elevated estrogen levels.
Your situation appears to be less related to these hormonal changes and does not resemble X chromosome abnormalities; it may be due to dominant inheritance or incomplete action of the Y chromosome.
Pelvic imaging and Y chromosome testing can be performed (though results may also be normal).

Reply Date: 2008/06/21

More Info

Hello,
Thank you for sharing your concerns and experiences regarding your physical characteristics and the potential implications for both yourself and your son. It sounds like you are navigating a complex situation that involves not only your own health but also your child's development. I appreciate your openness, and I will do my best to provide some insights based on the information you've shared.

From what you've described, it seems you may be experiencing a form of gender dysphoria, which is a condition where a person experiences discomfort or distress because there is a mismatch between their biological sex and their gender identity. In your case, it appears that you have some physical characteristics that are more typically associated with females, such as a wider pelvis and a different fat distribution pattern, while still retaining many male characteristics, including normal male function and body hair.

Your concerns about your body and how it may affect your son are valid. It's understandable to want to ensure that he does not face similar challenges or societal pressures. The fact that you have sought medical advice and had hormone levels checked is a positive step. However, it can be frustrating when tests do not reveal clear answers.

You mentioned the possibility of an endocrine issue, which is indeed a valid consideration. Hormonal imbalances can sometimes lead to atypical physical development. Conditions like Klinefelter syndrome (XXY) or other intersex variations could potentially explain some of the characteristics you've described. However, as you noted, your hormone levels were reported as normal, which complicates the picture.

Given your situation, I would recommend the following steps:
1. Seek a Specialist: Since you have already seen a metabolic specialist, it may be beneficial to consult with an endocrinologist who specializes in hormonal disorders. They can conduct more specific tests to evaluate your endocrine function and assess any potential issues with hormone receptors or signaling pathways.

2. Genetic Testing: Considering your concerns about possible intersex conditions or genetic variations, genetic testing could provide valuable insights. A geneticist can help determine if there are any chromosomal abnormalities that might explain your physical characteristics.

3. Psychological Support: Navigating gender dysphoria can be emotionally taxing. It might be helpful to speak with a mental health professional who specializes in gender identity issues. They can provide support and coping strategies as you explore your identity and the implications for your son.

4. Family Discussion: As your son approaches puberty, it may be beneficial to have open discussions with him about body image and identity. Providing a supportive environment where he feels comfortable discussing his feelings can help mitigate any potential issues he may face.

5. Stay Informed: Continue to educate yourself about gender identity and related health issues. Understanding the spectrum of gender and the various conditions that can affect physical development will empower you to make informed decisions regarding your health and your son's.

6. Support Groups: Consider joining support groups for individuals with similar experiences. Connecting with others who understand your situation can provide emotional support and practical advice.

Remember, you are not alone in this journey, and seeking help is a courageous step. Your proactive approach to understanding your condition and its impact on your son is commendable. I wish you the best in finding the answers you seek and in supporting your son as he grows.

Take care.

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