Androgen insensitivity syndrome
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Androgen insensitivity syndrome
Pathology
Female reproductive system disorders
Amenorrhea
Breast cancer
Fibrocystic breast changes
Intraductal papilloma
Mastitis
Paget disease of the breast
Phyllodes tumor
Intrauterine growth restriction
Oligohydramnios
Polyhydramnios
Potter sequence
Postpartum hemorrhage
Preterm labor
Pelvic inflammatory disease
Urethritis
Ectopic pregnancy
Gestational trophoblastic disease
Miscarriage
Germ cell ovarian tumor
Krukenberg tumor
Ovarian cyst
Ovarian torsion
Polycystic ovary syndrome
Premature ovarian failure
Sex cord-gonadal stromal tumor
Surface epithelial-stromal tumor
Chorioamnionitis
Congenital cytomegalovirus (NORD)
Congenital rubella syndrome
Congenital syphilis
Congenital toxoplasmosis
Neonatal conjunctivitis
Neonatal herpes simplex
Neonatal meningitis
Neonatal sepsis
Cervical incompetence
Gestational diabetes
Gestational hypertension
Hyperemesis gravidarum
Placenta accreta
Placenta previa
Placental abruption
Preeclampsia & eclampsia
Female sexual interest and arousal disorder
Genito-pelvic pain and penetration disorder
Orgasmic dysfunction
Fetal alcohol syndrome
Fetal hydantoin syndrome
Cervical cancer
Choriocarcinoma
Endometrial cancer
Endometrial hyperplasia
Endometriosis
Endometritis
Uterine fibroid
Male and female reproductive system disorders
Delayed puberty
Precocious puberty
5-alpha-reductase deficiency
Androgen insensitivity syndrome
Kallmann syndrome
Klinefelter syndrome
Turner syndrome
Male reproductive system disorders
Bladder exstrophy
Hypospadias and epispadias
Penile cancer
Priapism
Benign prostatic hyperplasia
Prostate cancer
Prostatitis
Erectile dysfunction
Male hypoactive sexual desire disorder
Cryptorchidism
Epididymitis
Inguinal hernia
Orchitis
Testicular cancer
Testicular torsion
Varicocele
Reproductive system pathology review
Benign breast conditions: Pathology review
Breast cancer: Pathology review
Cervical cancer: Pathology review
Complications during pregnancy: Pathology review
Congenital TORCH infections: Pathology review
Disorders of sex chromosomes: Pathology review
Disorders of sexual development and sex hormones: Pathology review
HIV and AIDS: Pathology review
Ovarian cysts and tumors: Pathology review
Penile conditions: Pathology review
Prostate disorders and cancer: Pathology review
Sexually transmitted infections: Vaginitis and cervicitis: Pathology review
Sexually transmitted infections: Warts and ulcers: Pathology review
Testicular and scrotal conditions: Pathology review
Testicular tumors: Pathology review
Uterine disorders: Pathology review
Vaginal and vulvar disorders: Pathology review
Assessments
Androgen insensitivity syndrome
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USMLE® Step 1 questions
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High Yield Notes
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Androgen insensitivity syndrome
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USMLE® Step 1 style questions USMLE
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External References
First Aid
2022
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2016
Androgen insensitivity syndrome p. 663
Estrogen p. 654, 680
androgen insensitivity syndrome p. 663
Testosterone p. 652, 682
androgen insensitivity syndrome p. 663
Transcript
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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.
Summary
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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