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PART 16: Endocrinology and Metabolism
SECTION 1   Endocrinology

349 Disorders of Sex Development
John C. Achermann / J. Larry Jameson

Figure 349-1  Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. T, testosterone; DHT, dihydrotestosterone; MIS, müllerian-inhibiting substance also known as anti-müllerian hormone, AMH.
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Figure 349-2  The genetic regulation of gonadal development.WT1, Wilms' tumor–related gene 1; SF1, steroidogenic factor 1 (also known as NR5A1); SRY, sex-determining region on the Y chromosome;
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Figure 349-3  Sex development.A. Internal urogenital tract. B. External genitalia. [After E Braunwald et al (eds): Harrison's Principles of Internal Medicine, 15th ed. New York, McGraw-Hill, 2001.]
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Figure 349-4  Simplified overview of glucocorticoid and androgen synthesis pathways. Defects in CYP21A2 and CYP11B1 shunt steroid precursors into the androgen pathway and cause androgenization of 46,XX females. Testosterone is synthesized in the...
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