[3] Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics.

[9] Low levels of oestrogen effect the HPG axis with no feedback to the anterior pituitary to inhibit the secretion of FSH and LH.

[9] Increased levels of these hormones will cause the body to not start puberty, not undergo menarche, and not develop secondary sex characteristics.

[12] In embryogenesis, the development of the male gonads is primarily controlled by the testis determining factor located on the sex-determining region of the Y chromosome (SRY).

[18] Full undermasculinization results in a fully developed vulva with testicles inside the body where the ovaries usually are, which is caused by conditions such as complete androgen insensitivity syndrome.

The surgical assignment of newborns with ambiguous genitalia to a binary sex for cosmetic purposes is considered a human rights violation.

[21] An absence in SRY causes SOX9 to not be expressed at the usual time or concentration, leading to a decreased testosterone and anti-Müllerian hormone production.

[4] The absence of the steroid hormones commonly associated with males drives Müllerian duct development and promotes the development of female genitalia, if anti-Müllerian hormone is suppressed or the body is insensitive, persistent Müllerian duct syndrome occurs when the individual has partial female reproductive, and partial male reproductive organs.

[23] The degree of development of the male reproductive tract is determined by the ratio of germ line cells expressing the XY genotype.

[22][23] The chromosomal loss results in partial expression of the SRY gene, giving rise to atypical development of the reproductive tract and altered hormone levels.

[24] Dysregulation in meiosis signalling to germ cells during embryogenesis may result in nondisjunction and monosomy X from not occurred separation of chromosomes in either the parental gamete or during early embryonic divisions.

[4][26] Clinical manifestation include primary amenorrhea, hypergonadotropic hypogonadism, streak gonads, infertility, and failure to develop secondary sex characteristics.