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Pseudovaginal Perineoscrotal Hypospadias Essay

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Pseudovaginal Perineoscrotal Hypospadias, abbreviated as PPSH, is an extremely rare inherited abnormality that only affects males. It is also known as 5-alpha reductase deficiency and is a disorder of sex development. Affected males are born with the normal XY and a full set of 46 chromosomes, however, are born appearing physically female due to their abnormal genitalia. In several cases, these males have been mistaken to be female and and raised following that gender norm. Upon reaching puberty, these males began to develop masculine features like a deepening voice and increase in muscle instead of breasts developing and menstruation beginning. Afterward, it was realized that these affected males were not females as the penis begins to …show more content…

The females are not affected by this mutation even if they have two copies of the gene. They can inherit two copies while remaining unaffected because they do not require the hormone DHT. Their sexual development does not need this hormone and they are able develop normally. Meanwhile, males with PPSH are usually infertile. The very few cases of PPSH have made it difficult to determine risk factors for this autosomal recessive disorder. One reported case in an individual has been attributed to consanguinity as both sets of their grandparents were related. Another recent studied revealed that this SRD5A2 mutation can also be attributed from uniparental disomy, or UPD. There is still some ambiguity about this autosomal recessive disorder as there are not a lot of cases to study or make connections between. While some inherited traits do not have significant effects on phenotypes, PPSH has a severe impact on physical appearance. The most significant effect on phenotype is the indistinguishable male genitalia. There have been three distinct phenotypic possibilities seen with PPSH in terms of sexual development. Some are born with ambiguous genitalia, which is difficult to determine the gender. Others have what appears to be male genitalia in the form of a micropenis while their urethra is on the other side of the penis. However, the most common phenotype in PPSH males is genitalia that appears female.

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