Androgen insensitivity syndrome


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Androgen insensitivity syndrome

Endocrine system

Adrenal gland disorders

Congenital adrenal hyperplasia

Primary adrenal insufficiency

Waterhouse-Friderichsen syndrome


Adrenal cortical carcinoma

Cushing syndrome

Conn syndrome

Thyroid gland disorders

Thyroglossal duct cyst


Graves disease

Thyroid eye disease (NORD)

Toxic multinodular goiter

Thyroid storm


Euthyroid sick syndrome

Hashimoto thyroiditis

Subacute granulomatous thyroiditis

Riedel thyroiditis

Postpartum thyroiditis

Thyroid cancer

Parathyroid gland disorders





Pancreatic disorders

Diabetes mellitus

Diabetic retinopathy

Diabetic nephropathy

Pituitary gland disorders


Pituitary adenoma






Growth hormone deficiency

Pituitary apoplexy

Sheehan syndrome


Constitutional growth delay

Diabetes insipidus

Syndrome of inappropriate antidiuretic hormone secretion (SIADH)

Gonadal dysfunction

Precocious puberty

Delayed puberty

Premature ovarian failure

Polycystic ovary syndrome

Androgen insensitivity syndrome

Kallmann syndrome

5-alpha-reductase deficiency

Polyglandular syndromes

Autoimmune polyglandular syndrome type 1 (NORD)

Endocrine tumors

Multiple endocrine neoplasia

Pancreatic neuroendocrine neoplasms

Zollinger-Ellison syndrome

Carcinoid syndrome



Opsoclonus myoclonus syndrome (NORD)

Endocrine system pathology review

Adrenal insufficiency: Pathology review

Adrenal masses: Pathology review

Hyperthyroidism: Pathology review

Hypothyroidism: Pathology review

Thyroid nodules and thyroid cancer: Pathology review

Parathyroid disorders and calcium imbalance: Pathology review

Diabetes mellitus: Pathology review

Cushing syndrome and Cushing disease: Pathology review

Pituitary tumors: Pathology review

Hypopituitarism: Pathology review

Diabetes insipidus and SIADH: Pathology review

Multiple endocrine neoplasia: Pathology review

Neuroendocrine tumors of the gastrointestinal system: Pathology review


Androgen insensitivity syndrome


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USMLE® Step 1 questions

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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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