Term
| Intersex is a term that describes |
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Definition
describes a group of conditions in which a person is born with reproductive anatomy that does not fit the typical definition of male or female.
It may or may not involve ambiguous genitalia
May be apparent at birth, but sometimes not obvious until puberty or later in life. |
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Term
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Definition
Presence, lack or exposure to inappropriate amounts of hormones in the womb
Female exposed to excess testosterone, born with genitals to appear male
Males not exposed to enough testosterone, born with genitals that appear female.
Chromosomal configuration other than the usual 46, XX or 46, XY
These disorders do not result in intersex conditions where there is genital ambiguity, but can disrupt reproductive function.
25% cases, cause is unknown |
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Term
| Gonad differentiation begins when |
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Definition
a region of the Y chromosome, called the sex-determining region of the Y chromosome (SRY), becomes active.causes other genes to be expressed, which triggers sex-differentiation.
Testosterone productions begins
causes the undifferentiated cells to form male reproductive anatomy
organizes the brain male patterns
Production of a protein called Mullerian Inhibiting Factor (MIF) |
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Term
| Early embryonic period, 2 sets of ducts |
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Definition
Wolffian ducts ducts form male reproductive anatomy
Mullerian ducts form female reproductive anatomy |
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Term
Production of testosterone
causes the -- ducts to form --
Production of MIF causes -- ducts to form-- |
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Definition
Production of testosterone
causes the Wolffian ducts to form male internal genitalia
Production of MIF
causes the Mullerian ducts to regress (will not have female internal genitalia). |
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Term
Why female is the “default” setting
no Y chromo |
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Definition
without any special instructions from the “Y” chromosome, the embryo will automatically develop reproductively into a female. Because there is no Y chromosome:
absence of testosterone
the Wolffian ducts regress
absence of MIF
enables the Mullerain ducts to develop into female internal genitalia. |
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Term
| Congenital adrenal hyperplasia (CAH |
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Definition
Inherited disorder affects the adrenal glands
Severe form – detected at birth and is life-threatening
Milder form – may go undetected throughout childhood
Caused by an enzyme insufficiency
Enzyme needed for the adrenal glands to produce cortisol.
Result, the precursor used to make cortisol is converted to androgen
Expsosure to excessive amounts of androgen in utero creates a male environment (genitals and brain masculine) |
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Term
| most prevalent cause of atypical sex anatomy in females (XX) |
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Definition
| CAH XX-Appear male-like (fused labia (scrotum) and oversized clitoris that resembles a penis |
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Term
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Definition
| can cause early development of male characteristics (deep voice, early appearance of pubic/armpit hair, enlarged penis, small testes, and well-developed muscles) but genitalia develop anatomically male. |
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Term
| Androgen Insensitivity Syndrome (AIS) |
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Definition
Person with AIS is genetically male (XY), produces male sex hormones (androgens), but is unresponsive due to a genetic defect in the gene that codes for the androgen receptor.
Androgen receptors do not function properly, making cells unresponsive to testosterone.
Result
Because fetal tissue is unresponsive to testosterone, the genitals remain undifferentiated (female)
Newborn has genitals of normal female appearance, undescended testes, and a short vagina with no cervix.
The “lack” of testosterone feminizes the body (female phenotype despite a male genotype – 46XY) |
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Term
The AIS Spectrum
incomplete to complete |
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Definition
Incomplete (partial) AIS, person may have both male and female physical characteristics.
Complete AIS, the sex organs appear female, but person has no uterus (testes may be in the abdomen).
Does not menstruate and is infertile
Usually detected puberty |
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Term
| 5 alpha-reductase deficiency (5-ARD) in males (male pseudohermaphroditism) |
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Definition
| originally born and raised as a girl, but later (adolescence) realizes his true biological sex |
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Term
| as guevedoces, which means “penis at 12” |
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Definition
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Term
| 5-ARD is an enzyme that converts |
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Definition
testosterone to dihydrotestosterone (DHT) in peripheral tissues.
DHT is the most potent androgen. |
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Term
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Definition
are genetically male (XY), and have male gonads (testicles are usually not descended)
External genitalia appears female or ambiguous at birth.
Hypothesized that rising testosterone levels at puberty generates sufficient levels of DHT and the body develops male sexual characteristics. |
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Term
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Definition
| substances that can alter normal endocrine functions actions by mimicking, amplifying or blocking the actions of naturally occurring hormonesResearch suggests that endocrine disruptors have an adverse affect reproductive health. |
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Term
| Endocrine disruptors linked to rise in -- and decline in |
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Definition
in hypospadias in the US
declined sperm count |
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Term
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Definition
endocrine disruptors with estrogenic effects can be naturally occurring (food) or synthetically produced.
natural- weak don't accumulate in body tissue ex: soy |
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Term
Synthetic (Industrial produced) endocrine disruptors can be found in
ex- |
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Definition
in soil, water, food, food packaging materials, cosmetics/personal care products and commonly used industrial and household products.Bisphenol A (BPA) used to harden plastics and liners for canned foods
Phthalates found in soft plastics, perfumes, and lotions |
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Term
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Definition
Males: observed increased occurrence of hypospadias (urethra opens on the under surface of the penis and cryptorchidism (failure of one or both testes to descend into the scrotum)
Females: Narrowing of the cervical opening and uterine malformations. |
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Term
| Long-term and hidden effects of DES exposure |
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Definition
Rise in the occurrence of a rare cancer in the vagina and cervix in DES-exposed daughters in their late teens or early 20s.
increase breast cancer, fertility problems, premature births, miscarriage
DES son- prostate/testicular cancer |
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Term
| Atypical Chromosomal Combinations (other than the usual 46, XX or 46, XY) Begins with |
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Definition
| making gametes (sex cells) - are made within the testicles (sperm) and ovaries (ova) by a process called meiosis. |
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Term
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Definition
| Chromosomes pairs can be arranged by appearance (size, staining pattern, etc) and displayed. |
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Term
| Meiosis is a type of cell division that |
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Definition
| reduces the number of chromosomes in the parent cell (46) by half (23) and produces four gamete cells. |
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Term
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Definition
All of these cells become sperm
Half will carry X chromosomes, half will carry Y chromosomes
Starting at puberty, spermatogenesis produces millions of sperm daily for the rest of this life. |
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Term
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Definition
Only one of the resulting four cells becomes a viable ova, the other three become polar bodies and fail to develop.
Ova contain only X sex chromosomes
Oogenesis normally occurs monthly, from puberty to menopause. |
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Term
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Definition
| Nondisjunction Can Change the Number of Chromosomes- Sometimes chromosomes fail to separate and travel together. - Chromosomes that fail to separate correctly undergo nondisjunction, which leads to the creation of gametes that have the wrong number of chromosomes. - This is a random event, not inherited. |
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Term
most common nondisjunction abnormality-
two disorders from wrong sex chromo numers |
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Definition
called trisomy 21 (three copies of chromosome 21) called Down Syndrome
Turner syndrome - Females with one X chromosome (45XO) are female with a condition called Turner Syndrome
Klinefelter syndrome – Males with two X chromosomes and a Y chromosome (47XXY) |
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Term
Turner syndrome- inherited?
results when- |
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Definition
not inherited. Rather, it is a random event (nondisjunction) that occurs during meiosis.
An ovum or sperm created during abnormal meiosis is missing a copy of one chromosome (22 chromosomes)
Turner syndrome results when one normal X chromosome is present and the other X chromosome is missing (45X), which is referred to as monosomy. |
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Term
| Turner syndrome can be recognized with: |
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Definition
Short stature
Broad chest
Short, extra folds of skin on the neck (webbed neck)
Many born with heart abnormalities that can be life-threatening
Individuals with Turner syndrome have no ovarian function.
Failure to begin puberty
Infertility
Typically receives estrogen treatment to stimulate female development |
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Term
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Definition
most common sex chromosome disorder in malesAn extra X chromosome(trisomy) caused by abnormal meiosis (nondisjunction).
Sperm with an X and a Y fertilizes (24) a normal X egg (23) produces an XXY (47).
An XX egg (24) is produced and fertilized with a Y sperm (23), yields XXY offspring (47). |
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Term
klinefelter might not be known until -- when -- develop.
males are -- and are treated with -- |
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Definition
May not know they have the condition until puberty or try to have children.
Puberty – men may develop breast tissue, have less muscle mass, have little facial/body hair, and hypogonadism.
Most are males are sterile (unable to produce sperm)
Affects between 1 in 500 – 1,000 males – may be higher as some males do not show symptoms.
Treated with testosterone injections |
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Term
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Definition
Person often has
Ovaries or testes that contain both ovarian and testicular tissues (some variation)
both XX and XY chromosomes (some cells contain the XX pairing, other cells contain XY pairing
Some have genitals that look typically female, some look typically male, and some are in between (ambiguous external genitalia)
One possible explanation is that two eggs are fertilized in the womb (one XX and the other XY) but rather than developing separately as fraternal twins, the zygotes merge to become one embryo. |
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