Male or Female?/ Androgen Insensitivity Syndrome + Short introduction

Short Introduction

Hello everyone at StemSocial. My name is Lenny, a medical student who would love to contribute to this community by sharing some interesting knowledge in the medical field. I will be sharing some phenomenal things, or things that might no be very well known to everybody so my content won't be boring to read for the people here, and I hope you will like it. Thanks a lot.

Back To The Topic

Picture Source

For someone like me who is interested in genetics, I always tend to return back to books to read more about particular diseases, syndromes, or abnormalities that I come across, and so this time I'm going to talk about a syndrome known as Androgen Insensitivity Syndrome.

Quick Look

Androgen Insensitivity Syndrome is when a particular person is genetically male yet the phenotype is female. In this particular syndrome, you won't be able to tell whether that person is a male or female since you may notice that this person has the body shape and characteristics of a female.

If we take a look at the genotype in this case we would see it as 46,XY (which is male) but in the phenotype it's female so what's the reason behind that?

Androgen insensitivity syndrome (AIS) is caused by various
genetic defects on the X chromosome which will lead to inability of the body to respond to the hormones responsible for the male appearance (Which meets the genetic make up).

Occurrence And Symptoms

It occurs as 1 per 20k live births. And for the main symptoms:

1. A vagina yet there is no uterus.
2. Development of breasts at puberty.
3. No menstruation and not fertile.
4. Testis may be found in abdomen (unusual place).
5. Inguinal hernia with a testis that can be felt during a
   physical exam.

Diagnosis

AIS is usually diagnosed at adolescence yet it may be diagnosed early at birth by the feeling the testicle physically in the abdominal region or it might be diagnosed if it's not complete AIS and there is a presence of male and female characteristics at the same time. Also there are other several genetical ways like: Chromosome analysis, FISH studies, and Molecular analysis

Famous People That Had AIS

Hanne Gaby Odiele

The Vogue supermodel revealed she was intersex last year, disclosing that she was born with internal testes that were surgically removed when she was 10. She has androgen insensitivity syndrome (AIS) which means she has male chromosomes but her body has not responded properly to testerone so the penis was not formed. She had surgery at the age of 18 to reconstruct her vagina, and now she campaigns against Intersex Genital Mutilation, and advocates that children should be given the opportunity to decide on surgery for themselves.

Source

In The End

This syndrome is usually diagnosed late and when it's diagnosed the doctors tend to do surgeries to match the gender ( so either surgeries so the patient will be known as male or others for female).

sources

Book: Genetics Analysis: An Intergrated Approach by John L.Bowman, Mark L.Sanders. (Where I firstly read about it, and then took some information from a local professor PP slides where he mentioned the headlines)

Site: Here

Thanks for reading and if you find any information that's wrong or suspect that it's wrong please let me know in the comments so I would check again and edit it.

*PS I feel like I couldn't find the perfect picture for the post though since I think any other picture might get censored.