Leydig Cell Hypoplasia

Leydig Cell Hypoplasia or LCH is an extremely rare intersex variation^[1] that effects AMAB/CTM individuals in which the Leydig Cell (a cell that secretes androgens) is underdeveloped.^[2]

The cells underdevelopment causes a decrease in androgens and may cause ones male traits to be more feminine in nature. One with this variation tends to have ambiguous genitals/fall on the agenital spectrum, hypospadias, decreased body hair, and decreased muscle tone. In rare cases, they may have a vagina. Often AMAB hypogonadism is seen in these individuals as well, which may cause them to also fall under aromatase excess syndrome.^[3]

History

There is no findable confirmation of its original discovery, however it has been known since 1995.^[4]

References

[1] ttps://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/#frequency

[2] ttps://en.wikipedia.org/wiki/Leydig_cell_hypoplasia

[3] ttps://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/

[4] ttps://www.cell.com/ajhg/pdf/S0002-9297(07)62597-X.pdf

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