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