A curious case of Androgen Insensitivity Syndrome
The androgen hormones play a huge role in a wide variety of processes that distinguish males from females just as the sex chromosome in females is XX and that of males is XY. Too little or too much of these hormones have profound implications for the physical appearance of both sexes, and may actually be the reason a male would have the appearance of a female, a female will have the appearance of a male, or someone being a mix of both gender.
As a non-medical scientist, I got to know in detail about the importance of the androgen hormone recently through the story of a young lady (or, should I say, man?). Having all the physical attributes of a girl, everyone in society expected her to grow up normally just like every other girl in the neighbourhood. When other girls started seeing their monthly menstruation and hers refused to come, everyone thought it is one of those rare cases of menstruation coming late in young ladies.
In no time, the teenage years passed and tongues started wagging all around the neighbourhood about her lack of menstrual periods. At some point in her early 20s, she decided to seek medical help to unravel the mystery behind her predicament. What she discovered was rudely shocking. Not only did she not lack ovaries but the whole uterus along with the fallopian tubes were completely missing!
The absence of the entire reproductive structure prompted the gynecologist in charge of her case into carrying out a hormonal test and chromosomal karyotyping of her genome. The gynae found out that she had a high testosterone level for someone with the physical attributes of a lady. To cap it all, the karyotyping analysis returned her sex chromosome as that of a male (XY, instead of XX). Not only did she look like a woman (a beautiful one at that) physically with well-grown pair of breasts, she had a vagina as well.
With the high level of testosterone and a sex chromosome of XY, the perfect ingredient to be a male seems complete and one should ordinarily be expecting a penis instead of a vagina in such an individual. It was at this point that the diagnosis of androgen insensitive syndrome was confirmed.
Androgen insensitive syndrome (AIS) is a medical condition characterized by a person that is a male biologically being insensitive to the androgen hormones. Testosterone, being the major one among the androgen hormones, is primarily responsible for the development of masculine attributes as well as the penis in males. In addition, the hormone has been implicated in the regulation of bone and muscle mass, RBC production, and fat distribution in the body.
Hers' was a case of complete androgen insensitive syndrome as opposed to a partial one. What actually happened is that the androgen receptor gene which codes for the protein responsible for the production of testosterone has undergone a change to its nucleotide base sequence. Thus, instead of developing male attributes, the female attributes dominated. Unfortunately, the domination is incomplete and this led to the lack of development of the female internal reproductive structures. Instead, undescended testes were found and these were recommended for surgical removal immediately for medical reasons.
In summary, androgen insensitive syndrome makes the young man appear in a female body. The implication is that she will not be able to menstruate or have babies throughout her lifetime. How common is this condition? According to this article by Medline plus, the condition is found in 2 to 5 out of 100,000 people who genetically identified as males.
What do you guys think?