Androgen insensitivity syndrome


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Androgen insensitivity syndrome

Reproductive system

Male and female reproductive system disorders

Precocious puberty

Delayed puberty

Klinefelter syndrome

Turner syndrome

Androgen insensitivity syndrome

5-alpha-reductase deficiency

Kallmann syndrome

Male reproductive system disorders

Hypospadias and epispadias

Bladder exstrophy


Penile cancer


Benign prostatic hyperplasia

Prostate cancer


Inguinal hernia




Testicular torsion

Testicular cancer

Erectile dysfunction

Male hypoactive sexual desire disorder

Female reproductive system disorders


Ovarian cyst

Premature ovarian failure

Polycystic ovary syndrome

Ovarian torsion

Krukenberg tumor

Sex cord-gonadal stromal tumor

Surface epithelial-stromal tumor

Germ cell ovarian tumor

Uterine fibroid



Endometrial hyperplasia

Endometrial cancer


Cervical cancer

Pelvic inflammatory disease


Female sexual interest and arousal disorder

Orgasmic dysfunction

Genito-pelvic pain and penetration disorder


Fibrocystic breast changes

Intraductal papilloma

Phyllodes tumor

Paget disease of the breast

Breast cancer

Hyperemesis gravidarum

Gestational hypertension

Preeclampsia & eclampsia

Gestational diabetes

Cervical incompetence

Placenta previa

Placenta accreta

Placental abruption



Potter sequence

Intrauterine growth restriction

Preterm labor

Postpartum hemorrhage


Congenital toxoplasmosis

Congenital cytomegalovirus (NORD)

Congenital syphilis

Neonatal conjunctivitis

Neonatal herpes simplex

Congenital rubella syndrome

Neonatal sepsis

Neonatal meningitis


Gestational trophoblastic disease

Ectopic pregnancy

Fetal hydantoin syndrome

Fetal alcohol syndrome

Reproductive system pathology review

Disorders of sex chromosomes: Pathology review

Prostate disorders and cancer: Pathology review

Testicular tumors: Pathology review

Uterine disorders: Pathology review

Ovarian cysts and tumors: Pathology review

Cervical cancer: Pathology review

Vaginal and vulvar disorders: Pathology review

Benign breast conditions: Pathology review

Breast cancer: Pathology review

Complications during pregnancy: Pathology review

Congenital TORCH infections: Pathology review

Disorders of sexual development and sex hormones: Pathology review

Amenorrhea: Pathology Review

Testicular and scrotal conditions: Pathology review

Sexually transmitted infections: Warts and ulcers: Pathology review

Sexually transmitted infections: Vaginitis and cervicitis: Pathology review

HIV and AIDS: Pathology review

Penile conditions: Pathology review


Androgen insensitivity syndrome


0 / 9 complete

USMLE® Step 1 questions

0 / 2 complete

High Yield Notes

9 pages


Androgen insensitivity syndrome

of complete


USMLE® Step 1 style questions USMLE

of complete

A 17-year-old girl presents to her family physician for a routine checkup. The patient was diagnosed with androgen insensitivity syndrome during infancy, and her parents elected to delay gonadectomy until a later age. Physical examination is unremarkable. She declines a pelvic examination. If left untreated, which of the following complications is this patient at highest risk of developing?  

External References

First Aid








Androgen insensitivity syndrome p. 663

Estrogen p. 654, 680

androgen insensitivity syndrome p. 663

Testosterone p. 652, 682

androgen insensitivity syndrome p. 663



Marisa Pedron

Tanner Marshall, MS

Androgen insensitivity syndrome is a genetic disorder, in which a person with an XY genotype - genetically a male – is “insensitive” or doesn’t respond to androgens, which are male sex hormones.

Androgens are responsible for primary sex characteristics like development of the penis and testes as well as secondary sex characteristics like height and body shape, so in androgen insensitivity syndrome all of these can be affected.

Okay, normally, very early on in fetal life, male and female genital tissues are undifferentiated and look identical.

During the 7th or 8th week, the fetal gonads develop either into testes or ovaries.

In males, a gene on the Y chromosome, called the sex-determining region Y gene, or SRY gene for short, helps the fetal gonads turn into the testes.

By the end of week 8, the testes start producing androgens, the main one being testosterone.

A small fraction of testosterone, gets converted by the enzyme 5α- reductase into its more potent form, called dihydrotestosterone, which is mostly responsible for development of male external genitalia.

Looking closely at these structures, at the top there’s the genital tubercle, which is a small projection.

Just below that, there's the urethral groove, which is the external opening of the urogenital sinus or the future urethra and bladder and is surrounded by the urethral folds and the labioscrotal swellings.

Now, once dihydrotestosterone reaches the undifferentiated external genital structures, it makes the genital tubercle elongate into the phallus that eventually becomes part of the penis.


Androgen insensitivity syndrome (AIS) is a rare genetic disorder that affects how the body responds to testosterone. Testosterone is a hormone that is responsible for the development and maintenance of male sex characteristics. People with AIS either do not have any testosterone receptors, or their receptors are not sensitive to testosterone. As a result, an individual presents with females' physical characteristics, despite having XY chromosomes (genetic makeup for males).

There are three types of AIS: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS). CAIS is the most severe type, while MAIS is the mildest. Individuals with AIS will usually have a normal female phenotype of appearance, but they may have infrequent or absent periods and be infertile.


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