Podcast
Questions and Answers
What is the primary cause of undervirilized males or phenotypic females in 46,XY DSD?
What is the primary cause of undervirilized males or phenotypic females in 46,XY DSD?
What can abnormalities in hCG/LH receptors within the testes lead to?
What can abnormalities in hCG/LH receptors within the testes lead to?
Which condition results from defects in AMH and AMH receptors?
Which condition results from defects in AMH and AMH receptors?
What can defects in the androgen receptor result in?
What can defects in the androgen receptor result in?
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In 46,XY DSD, what may peripheral defects involve?
In 46,XY DSD, what may peripheral defects involve?
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Which enzyme deficiency can lead to Leydig cell hypoplasia?
Which enzyme deficiency can lead to Leydig cell hypoplasia?
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What is a potential outcome of AMH and AMH receptor disorders?
What is a potential outcome of AMH and AMH receptor disorders?
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Complete androgen-insensitivity syndrome (CAIS) individuals appear as:
Complete androgen-insensitivity syndrome (CAIS) individuals appear as:
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What can abnormalities in the androgen receptor action lead to?
What can abnormalities in the androgen receptor action lead to?
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Study Notes
46,XY DSD (Disorders of Sex Development)
- Undervirilized males or phenotypic females in 46,XY DSD are primarily caused by androgen insensitivity or defects in androgen production and action.
hCG/LH Receptor Abnormalities
- Abnormalities in hCG/LH receptors within the testes can lead to impaired testosterone production and insufficient differentiation of male genitalia.
AMH and AMH Receptor Deficiencies
- Defects in Anti-Müllerian Hormone (AMH) and its receptors result in persistent Müllerian duct syndrome, leading to the presence of female reproductive structures in genetically male individuals.
Androgen Receptor Defects
- Defects in the androgen receptor can cause varying degrees of androgen insensitivity, resulting in phenotypic females despite a 46,XY karyotype.
Peripheral Defects in 46,XY DSD
- Peripheral defects may involve issues in adrenal steroidogenesis or transport, affecting overall hormone levels and leading to atypical genital development.
Leydig Cell Hypoplasia
- 17β-Hydroxysteroid dehydrogenase deficiency can lead to Leydig cell hypoplasia, contributing to reduced testosterone synthesis.
Outcome of AMH and AMH Receptor Disorders
- Disorders of AMH and its receptor can lead to male individuals having female or ambiguous genitalia due to failure of Müllerian duct regression.
Complete Androgen-Insensitivity Syndrome (CAIS)
- Individuals with CAIS typically present as females with well-developed external female genitalia and secondary sexual characteristics, despite having XY chromosomes.
Abnormalities in Androgen Receptor Action
- Abnormalities can result in a spectrum of conditions from complete insensitivity to partial androgen sensitivity, influencing genital and secondary sexual development.
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Description
Test your knowledge on cases of 46,XY DSD stemming from abnormalities in testosterone biosynthesis and androgen-receptor action. Learn about enzymatic defects, undervirilization, phenotypic females, and peripheral defects like abnormal 5α-reductase type 2 enzyme action.
