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Nick

April 16, 2019 0 Comment

Nick,
Thanks for choosing such an interesting disorder. I knew about AMH but wasn’t aware of the PMDS. What is common between the disorders we chose for this assignment is that they both affect sexual development. Individuals with PMDS are always males who have normal male reproductive organs and normal male external genitalia but they also have female reproductive organs (uterus and fallopian tubes). Due to a mutation in the AMH protein, it cannot be released from the cells of the testes and doesn’t bind to the receptor on the Müllerian duct cells, and these cells never receive the signal for apoptosis. As a result, the Müllerian duct persists and develops into a uterus and fallopian tubes. Since the AMH protein isn’t involved in the development of male reproductive organs, affected males also have male reproductive organs. FD/MAS, on the other hand, affects both males and females in equal numbers, although precocious puberty is more common in females (1).
PMDS is caused by mutations in the AMH gene (PMDS type 1) or AMHR2 gene (PMDS type 2), and the disorder is inherited in an autosomal recessive manner. Because The AMH gene provides instructions for making a protein involved in male sex differentiation, its mutation affects only reproductive system. FD/MAS is caused by mutations in the GNAS1 gene and may have different manifestations, not just in reproductive system (1).

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