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Two hormones are critical in normal sex differentiation.
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In CAH, the absence of a critical enzyme allows a 46,XX fetus to produce androgens, resulting in ambiguous external genitals. A CAH individual may have an oversized clitoris and fused labia.
Receive s about upcoming NOVA programs and related content, as well as featured reporting about current events through a science lens. In a condition related to CAH, some 46,XY individuals do not have the properly functioning enzymes needed to convert cholesterol to testosterone.
When such enzymes prove completely incapable of creating testosterone, the genitals appear female; when the enzymes function at a low level, ambiguous genitals form. AIS affects the section of the 46,XY population that is physically unable to react to androgens.
The Wolffian, or male, duct structures do not form because of the lack of response to androgens. At puberty, CAIS individuals grow breasts but do not menstruate.
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The testes are sometimes removed from the abdomen because they may develop cancer. The external genitals are ambiguous and duct development is incomplete. Depending on the selection of hormone treatment, PAIS individuals may exhibit partial male or partial female development at puberty. In gonadal dysgenesis, the androgen receptors are intact while the androgen-secreting testes are not.
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With estrogen treatment, female puberty can be achieved. Partial Gonadal Dysgenesis in ambiguous genitals and duct development, as some androgens and MIS are produced.
While testes and Wolffian ducts do exist, the male external genitals are similar in size to those of a normal female. If left intact, an adult 5-Alpha Reductase Deficiency individual will appear generally male but with small genitals and no facial hair.
In order to create a proper penis in a 46,XY individual, androgens must be secreted twice during fetal life. First, the androgens help to shape the basic structures into a penis and scrotum; later, the androgens enlarge the penis.
A micropenis is the result of normal androgen secretion in the first stage and little or no androgen secretion in the second. The penis is normal in shape and function, but extremely small in size.
While earlier surgeons often converted micropenises to female genitals, today micropenises are often left intact. Individuals with intact micropenises are often given testosterone to stimulate masculinizing puberty.
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Sometimes chromosomes but do not form standard 46,XX or 46,XY combinations. Small penis and testes, low androgen secretion, and possible female breast development are characteristics of this syndrome.
While Turner women have female external genitals, the individuals lack properly formed ovaries. Without estrogen treatment, no breast growth occurs. Other possible features of Turner Syndrome include short stature, webbing of the neck, and misshapen internal organs.
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If all of the proper stages of normal male sex differentiation occur, but the timing is incorrect by just days, errors may arise. The occasional outcome in a 46,XY individual with this timing defect is ambiguous external genitals.
The statistics on frequency were obtained from the Intersex Society of North America www. Support Provided By Learn More.
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Testosterone Biosynthetic Defects—One in 13, births Receive s about upcoming NOVA programs and related content, as well as featured reporting about current events through a science lens. Address. Zip Code. Related A Short History of Quarantine. One Man's Battle With Anorexia. Share this article.