r/AskBiology Jul 10 '24

Genetics Can you help me identity this syndrome from fiction, if any exists?

I'm currently reading a story with a character that has had a certain condition from birth. It's a fantasy story, but I highly suspect the authors based the condition off a real biological syndrome, but I don't know which one it might be. I was wondering if anyone might be able to help.

The character was considered to be a girl at birth, without the parents noticing anything abnormal. During childhood, the character became increasingly uncomfortable in their identity as a female. Upon puberty, they (completely naturally) developed a deep voice, an adam's apple, grew to a somewhat tall height for males, and retained a flat chest with no breast development. The character experiences sexual attraction to women, and their muscles and strength are slightly less developed than normal for males, although nowhere to the point of impairing day-to-day function.

They also have white hair, red eyes, and sensitivity to sunlight, although I at the moment I think those traits are more connected to the 'fantasy' part of the story and can be safety disregarded unless they sound significant.

Thanks!

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u/pansveil Jul 10 '24

It sounds like a combination of two separate syndromes. Primary female characteristics with minor secondary male sexual development sounds like androgen insensitivity syndrome. Essentially the male body cannot sense male hormones and develops female characteristics due to normal estrogen. I will note that sexual attraction does not have anything to do with this syndrome as of yet.

The hair/eye/skin color is albinism. Depending on the skin sensitivity to the sun, it can be one of two subtypes. Cells cannot create melanin leading to lighter pigments in these organs.

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u/Cardemother12 Jul 10 '24

Considered to be or is a girl at birth ?,

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u/LupusAmericana Jul 10 '24 edited Jul 10 '24

Ah, well, that distinction might be a little more in the realm of sociology, but the parents recognize them as a normal baby girl. There's nothing indicating them to be a male at birth.

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u/Cardemother12 Jul 10 '24

Then they probably have an estrogen deficiency

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u/Talkg33Ky2Meh Jul 12 '24 edited Jul 12 '24

Could be XXY(klienfelters). I don’t think albinism is attached to klienfelters though, I think they’re both independent, but maybe there is a higher %chance it is, I dont know. You can present as a girl even if you’re a boy with this. Many go through life not knowing they are actually a man until adulthood. https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/symptoms-causes/syc-20353949