Wednesday, June 2, 2021

Complete Androgen Insensitivity- A perfect female

 Hello everyone!

In today's post I'll try to explain you what Complete Androgen Insensitivity Syndrome (CAIS) is.

Androgens are primarily male hormones required for a normal male development. But also, these androgens are secreted in females by their adrenal glands and have some role in female body development too, e.g Growth of pubic and axillary hair.

Now imagine, a very very beautiful adolescent girl, say around 16 years of age, comes to your clinic with a history of primary amenorrhoea. She has absolutely flawless skin (No acne like other 16yr olds), breast development normally, no pubic and axillary hair and on further examination, some inguinal mass, maybe a hernia.

You ask the radiologist for an USG abdomen and pelvis. Don't be surprised to find testes as the hernia content and no uterus!!

This is a classic case of CAIS.

Karyotype analysis- 46XY

Inheritance- XL recessive, mutation in the AR (Androgen Receptor) gene

Genitalia- Female with blind vaginal pouch

Wolffian duct- Often present

Mullerian Duct- Absent

Gonads- Testes

Hormone Profile- Increased LH and Testosterone (But the receptors have resistance to it's action)

Increased Estradiol, FSH slightly raised.

For more pictographic representation, Watch HOUSE MD S02E13 "Skin deep"

That's it!

Happy Studying

Stay awesome!

Dr. ShilPill

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