human sex development

Sex-determining region on the Y chromosome (SRY)

� The SRY gene provides instructions for making a transcription factor called the sex-determining region Y protein. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Th

Testes determining factor (TDF)

...

Testosterone

� a steroid hormone that stimulates development of male secondary sexual characteristics, produced mainly in the testes, but also in the ovaries and adrenal cortex.

Mullarian inhibiting substance ( MIS) (aka anti- Mullarian hormone (AMH))

� a glycoprotein hormone produced by the Sertoli cells of the male during fetal development that causes regression and atrophy of the M�llerian ducts

5-alpha-reductase

catalyzes the production of dihydrotestosterone from testosterone. Also found in adrenal cortex

Dihydrotestosterone (DHT)

a male sex hormone that is the active form of testosterone, formed from testosterone in bodily tissue.

Aromatase

� An enzyme or complex of enzymes that promotes the conversion of an androgen into estrogen

Estradiol

� A natural estrogenic hormone that is a phenolic alcohol C18H24O2 secreted chiefly by the ovaries, is the most potent of the naturally occurring estrogens

undifferentiated gonads

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primordial germ cells

� A germ cell is any biological cell that gives rise to the gametes of an organism that reproduces sexually.

paramesonephric duct (Mullarian duct)

� Either of two embryonic tubes extending along the mesonephros that become the uterine tubes, uterus, and part of the vagina in the female and that form the prostatic utricle in the male.

mesonephric duct (Wolffian duct)

� The embryonic duct of the mesonephros, which in the male becomes the vas deferens and in both sexes gives rise to the ureter.

male reproductive track (testes, seminiferous tubules epidydymus, vas deferens),

� Testes
o a typically paired male reproductive gland that produces sperm and secretes testosterone and that in most mammals is contained within the scrotum at sexual maturity
� Seminiferous tubules epidydymus
o One of two or three twisted curved tubules

female reproductive track (ovaries, fallopian tubes (oviducts), uterus),

� Ovaries
o a female reproductive organ in which ova or eggs are produced, present in humans and other vertebrates as a pair.
� Fallopian tubes (oviducts)
o (in a female mammal) either of a pair of tubes along which eggs travel from the ovaries to the ute

urethra

� the duct by which urine is conveyed out of the body from the bladder, and which in male vertebrates also conveys semen.

adrenal cortex

� The outer portion of the adrenal glands that produces several steroid hormones, including cortisol and aldosterone.

cells of Leydig

� Any of the interstitial cells of the testes that produce androgens.

spermatogonia

� a male germ cell that gives rise to a spermatocyte early in spermatogenesis.

Ova

� a mature female reproductive cell, esp. of a human or other animal, that can divide to give rise to an embryo usually only after fertilization by a male cell.

XX

female

XY

male

XO

a genetic defect in which affected women have only one X chromosome, causing developmental abnormalities and infertility.

XXX

Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no un

XXY, Klinefelters syndrome

a syndrome affecting males in which the cells have an extra X chromosome (in addition to the normal XY), characterized by a tall thin physique, small infertile testes, and enlarged breasts.

XYY

47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male's cells. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most males with 47,XYY s

Complete androgen insensitivity syndrome (CAIS or testicular feminization)

Androgen insensitivity syndrome (AIS) is when a person who is genetically male (who has one X and one Y chromosome) is resistant to male hormones (called androgens). As a result, the person has some or all of the physical traits of a woman, but the geneti

partial androgen insensitivity (PAIS)

The extent of androgen insensitivity in 46 XY individuals is quite variable, even in a single family. Partial androgen insensitivity typically results in "ambiguous genitalia." The clitoris is large or, alternatively, the penis is small and hypospadic (th

intersex

Intersex" is a general term used for a variety of conditions in which a person is born with a reproductive or sexual anatomy that doesn't seem to fit the typical definitions of female or male.

hermaphrodites male

an individual in which reproductive organs of both sexes are present.

pseudo-hermaphrodites

an individual having internal reproductive organs of one sex and external sexual characteristicsresembling those of the other sex or being ambiguous in nature.

female pseudo-hermaphrodites

In female p., the individual is genetically female and has female gonads (ovaries) but has significant male secondary sex characters. In male p., the individual is genetically male and has male gonads (testes) but has significant female secondary sex char

5-alpha reductase deficiency, guevedoche

5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodi

Turners syndrome

a genetic defect in which affected women have only one X chromosome, causing developmental abnormalities and infertility.

congenital adrenal hyperplasia (CAH),

is a collection of genetic conditions that limit your adrenal glands' ability to make certain vital hormones. In most cases of congenital adrenal hyperplasia, the adrenal glands don't produce enough cortisol. The production of two other classes of hormone

clitoromegaly

An enlarged clitoris

hypospadia

is a condition in which the opening of the urethra is on the underside of the penis, instead of at the tip.

mixed gonadal dysgenesis

MGD is a disorder of sexual differentiation in which a chromosomal abnormality causes a child to be born with two different gonads: an undescended testis and a dysgenetic (malformed) "streak" gonad.

gynecomastia

enlargement of a man's breasts, usually due to hormone imbalance or hormone therapy.
Excess testosterone is converted to estradiol through aromatase

hyper-androgenism

Excessive secretion of androgens (male sex hormones).

androgen

a male sex hormone, such as testosterone.

estrogen

any of a group of steroid hormones that promote the development and maintenance of female characteristics of the body. Such hormones are also produced artificially for use in oral contraceptives or to treat menopausal and menstrual disorders.

anabolic steroid

a synthetic steroid hormone that resembles testosterone in promoting the growth of muscle. Such hormones are used medicinally to treat some forms of weight loss and (illegally) by some athletes and others to enhance physical performance.

chimera

A hybrid DNA molecule generated by ligating DNA restriction fragments from different sources. Transcription and translation of the chimeric DNA plasmid results in a chimeric protein

mosaic

Mosaicism is a condition in which cells within the same person have a different genetic makeup

Barr body

a small, densely staining structure in the cell nuclei of female mammals, consisting of a condensed, inactive X chromosome. It is regarded as diagnostic of genetic femaleness.

X-inactivation

X-inactivation is a process by which one of the two copies of the X chromosome present in female mammals is inactivated

Freemartin

is an infertile female mammal which has masculinized behavior and non-functioning ovaries