17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (17 beta or 17-beta HSD)
People with XY chromosomes and testes lack one of the enzymes necessary for testosterone synthesis. Most are born with a vulva and vagina, and their testes are often undescended. Some may have genitals that do not clearly resemble a typical penis or vulva. Others may have a penis smaller than typical (micropenis) with the urethra […]
5-alpha reductase deficiency (5-ARD)
Individuals with XY chromosomes and testes produce typical levels of testosterone but lack the enzyme needed to convert testosterone into dihydrotestosterone (DHT). This affects the development of their external sex characteristics, often leading to genital differences noticeable at birth, which can include a smaller-than-typical penis, genitals that do not clearly resemble a typical penis or […]
Ambiguous genitalia
Ambiguous genitalia is a rare condition where a child is born with outer genitals that do not clearly look either male or female. They may have features of both sexes or not be fully developed. The characteristics of the child’s genitals may not match their internal sex organs or their genetic sex. This condition is […]
Chromosomes
Chromosomes are threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell. In plants and animals (including humans), chromosomes reside in the nucleus of cells. Humans have 22 pairs of numbered chromosomes (autosomes) and one pair of sex chromosomes (XX or XY), for […]
Classic CAH
A genetic variations that affect the enzymes allowing the adrenal glands to produce specific hormones regulating body functions. People with CAH do not consistently produce the required amounts of cortisol (stress/sickness response), aldosterone (potassium/sodium regulation), or both, and may naturally produce higher-than-typical levels of androgens like testosterone to compensate. Classic CAH is characterized by more […]
Congenital Adrenal Hyperplasia (CAH)
A group of related genetic variations that affect the enzymes allowing the adrenal glands to produce specific hormones regulating body functions. People with CAH do not consistently produce the required amounts of cortisol (stress/sickness response), aldosterone (potassium/sodium regulation), or both, and may naturally produce higher-than-typical levels of androgens like testosterone to compensate. People with XX […]
Intersex Genital Mutilation (IGM)
Intersex Genital Mutilation (IGM) is an intervention on a healthy intersex body. It is performed when, according to societal and medical notions, a person’s external genitals do not look “normal” enough to pass as “male” or “female” genitals. Performing IGM was not always the default practice. Before the middle of the twentieth century, as a 2016 […]
Jacobs Syndrome (XYY Syndrome or 47XYY)
People with Jacobs Syndrome develop with an extra Y chromosome. They may not have any obvious physical variations as a result, but might be taller than usual or have other identifiable differences unrelated to sex characteristics. Some individuals with Jacobs Syndrome may also have a smaller-than-typical penis or scrotum, hypospadias, and/or undescended testicles. Source
Klinefelter syndrome (XXY)
Also called 47, XXY, this is a genetic variation in which a person is born with an extra X chromosome. Individuals with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Researchers believe that up to 65 percent of people with Klinefelter syndrome are never diagnosed Source
Salt-wasting CAH
CAH (Congenital Adrenal Hyperplasia) is a group of related genetic variations that affect the enzymes allowing the adrenal glands to produce specific hormones regulating body functions. People with CAH do not consistently produce the required amounts of cortisol (stress/sickness response), aldosterone (potassium/sodium regulation), or both, and may naturally produce higher-than-typical levels of androgens like testosterone […]