Androgen insensitivity syndrome laboratory findings: Difference between revisions
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**Less than normal decline of sex hormone-binding globulin in response to a standard dose of the anabolic androgen, stanozolol. | **Less than normal decline of sex hormone-binding globulin in response to a standard dose of the anabolic androgen, stanozolol. | ||
**Higher than normal levels of anti-müllerian hormone during the first year of life or after puberty has begun. | **Higher than normal levels of anti-müllerian hormone during the first year of life or after puberty has begun. | ||
*Molecular genetic testing: | |||
**Single-gene testing | |||
** Multi-gene panel | |||
**Comprehensive genomic testing like including exome sequencing and genome sequencing may be considered if single-gene testing (and/or use of a multi-gene panel that includes AR) fails to confirm a diagnosis in an individual with features of AIS. | |||
==References== | ==References== | ||
Revision as of 23:46, 6 July 2017
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Androgen insensitivity syndrome Microchapters |
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Differentiating Androgen insensitivity syndrome from other Diseases |
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Diagnosis |
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Treatment |
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Androgen insensitivity syndrome laboratory findings On the Web |
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Blogs on Androgen insensitivity syndrome laboratory findings |
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Directions to Hospitals Treating Androgen insensitivity syndrome |
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Risk calculators and risk factors for Androgen insensitivity syndrome laboratory findings |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S[2]
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Overview
- Evidence of normal or increased synthesis of testosterone and its normal conversion to dihydrotestosterone, and normal or increased luteinizing hormone (LH) production by the pituitary gland AND/OR by the identification of a hemizygous pathogenic variant.
Laboratory Findings
- Supportive laboratory findings:[1]
- Normal 46,XY karyotype
- Evidence of normal or increased synthesis of testosterone (T) by the testes
- Evidence of normal conversion of testosterone to dihydrotestosterone (DHT)
- Evidence of normal or increased luteinizing hormone (LH) production by the pituitary gland
- In CAIS, but not in PAIS: possible reduction in postnatal (0-3 months) surge in serum LH and serum T concentrations.
- In the “predominantly male” phenotype:
- Less than normal decline of sex hormone-binding globulin in response to a standard dose of the anabolic androgen, stanozolol.
- Higher than normal levels of anti-müllerian hormone during the first year of life or after puberty has begun.
- Molecular genetic testing:
- Single-gene testing
- Multi-gene panel
- Comprehensive genomic testing like including exome sequencing and genome sequencing may be considered if single-gene testing (and/or use of a multi-gene panel that includes AR) fails to confirm a diagnosis in an individual with features of AIS.