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You are watching: What is the genotype of a human female?

Purves D, Augustine GJ, Fitzpatrick D, et al., editors. Neuroscientific research. 2nd edition. Sunderland also (MA): Sinauer Associates; 2001.


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Roughly speaking, sex have the right to be considered in terms of 3 categories: genotypic sex, phenotypic sex, and gender. Genotypic sex refers particularly to an individual"s 2 sex chromosomes. Most world have actually either 2 X chromosomes (genotypic female) or an X and a Y chromosome (genotypic male). Phenotypic sex refers to an individual"s sex as figured out by their inner and also outside genitalia, expression of additional sex attributes, and also habits. If every little thing proceeds according to plan during breakthrough (Box A), the XX genokind leads to a person via ovaries, oviducts, uterus, cervix, clitoris, labia, and also vagina—i.e., a phenotypic female. By the very same token, the XY genokind leads to a perboy through testicles, epididymis, vas deferens, seminal vesicles, penis, and scrotum—a phenotypic male. Gender refers even more extensively to an individual"s subjective perception of their sex and also their sexual orientation, and also is therefore harder to specify than genotypic or phenotypic sex. Typically speaking, sex identification requires self-appraisal according to the traits most regularly associated via one sex or the various other (dubbed gender traits), and these have the right to be affected to some level by cultural standards. Sexual orientation also involves self-appraisal in the conmessage of culture. For purposes of knowledge the neurobiology of sex, it is helpful to think of genotypic sex as largely immutable, phenotypic sex as modifiable (by developmental procedures, hormone treatment, and/or surgery), and sex as a more complex construct that is identified culturally and biologically.



Clbeforehand, then, genotypic sex, phenotypic sex, and sex are not constantly aligned. Variations in alignment have the right to be minor, or they have the right to obstacle the usual definitions of female and male and also bring about psychosocial problems and also sexual dysfeature (watch Box B). Genetic variations incorporate people who are XO (Turner"s syndrome), XXY (Klinefelter"s syndrome), or XYY. Each of these genotypes has its own certain phenokind. Other hereditary variations aclimb from mutations in genes coding for hormone receptors or for the hormones themselves. For instance, a metabolic disorder that leads to overactive adrenals throughout maturation, called congenital adrenal hyperplasia (CAH), causes abusually high levels of circulating androgens and therefore, along with serious salt imbalance, an ambiguous sexual phenotype. In addition to having a big clitoris and fsupplied labia at birth, females through CAH generally exhilittle “tomboyish” actions as kids and tend to form homosex-related relationships as adults. High levels of circulating androgens from the adrenals might cause sexually dimorphic brain circuitry to have actually a male quite than female company, resulting in even more aggressive play and the ultimate option of a female sex-related partner.



An example of a mutation in a gene responsible for hormone receptors is androgen insensitivity syndrome (AIS), also dubbed testicular feminization. The receptor deficiency leads to the advance of the interior genitalia of a male and the exterior genitalia of a female in an individual that is genogenerally XY. Therefore, human being with androgen insensitivity syndrome look like females and self-identify as female, also though they have actually a Y chromosome. Since they are mostly not mindful of their condition till puberty, when they fail to menstruate, they view themselves and are knowledgeable by others as female. Therefore, their gender identity matches exterior sexual phenoform, yet not genotype. Although this syndrome is relatively unprevalent (about 1 in 4000 births), tbelow are some well-known examples of people assumed or known to have actually had actually AIS (e.g., Joan of Arc and Wallis Simpkid, the womale for whom King Edward of England provided up his throne).

Another variation in the alignment of genokind, phenokind, and also gender is genotypic males that are phenotypic females early in life, yet whose sex-related phenokind transforms at puberty. As infants and kids, these people are phenotypic females because they absence an enzyme, 5-α-reductase, that promotes the early on breakthrough of male genitalia (view Box A). Such kids have somewhat ambiguous but mostly female-showing up genitalia (they have actually labia with an enlarged clitoris, and also undescended testes). As an outcome, they are mostly elevated as females. At puberty, but, once the testicular secretion of androgen becomes high, the clitoris develops right into a penis and the testes descend, transforming these individuals right into phenotypic males. In the Dominideserve to Republic and also Haiti, where this congenital syndrome has been thoroughly studied in a particular pedigree, the condition is referred to colloquially as “testes-at-twelve.” Such people mostly exhilittle male sex actions at puberty, and also a lot of inevitably live as males.

The term used to explain all these variations is “intersexuality.” Taken together, these individuals consist of roughly 1–2% of all live births. In enhancement to the more clearly characterized categories of Klinefelter"s syndrome, Turner"s syndrome, CAH, AIS, and 5-α-reductase deficiency, subtle permutations and also combicountries of genes, hormones, and also atmosphere provide rise to a huge variety of organic and behavioral possibilities. In all these permutations and combinations, the relevant brain circuitry established beforehand in advancement mostly determines sexual habits and also identity (Box B).

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By agreement with the publisher, this book is accessible by the search function, however cannot be browsed.