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Retired NBME 25 Answers

nbme25/Block 3/Question#3 (reveal difficulty score)
A 38-year-old pregnant woman had genetic ...
SRY gene translocation ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
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submitted by โˆ—shak360(19)
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See this question in NBME 27 asking about what a 5-alpha-reductase deficiency would look like.

The SRY gene is located on the Y chromosome and is responsible for producing the testis-determining factors, which results in male gonadal differentiation. In testis development, hormones secreted by Sertoli cells (MIF Macrophage Inhibiting Factor) and Leydig cells (testosterone and DHT) promote the development of male internal and external genitalia and suppress the development of female structures. SRY gene translocation can occur during recombination in which the SRY gene on the Y chromosome becomes part of the X chromosome, leading to an XX embryo developing male characteristics.

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