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Questions and Answers
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?
Which condition results from defects in AMH and AMH receptors?
What can defects in the androgen receptor result in?
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In 46,XY DSD, what may peripheral defects involve?
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Which enzyme deficiency can lead to Leydig cell hypoplasia?
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What is a potential outcome of AMH and AMH receptor disorders?
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Complete androgen-insensitivity syndrome (CAIS) individuals appear as:
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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.
