Module 9: Reproductive System Flashcards
• process of genetic inheritance that sets the gender of an individual at the moment of fertilization
SEX DETERMINATION
• development of differences between males and females from an undifferentiated zygote
SEX DIFFERENTIATION
• sequential processes of establishment of sex and sexual difference • includes the processes that determine: o CHROMOSOMAL or GENETIC SEX o GONADAL SEX o PHENOTYPIC or GENITAL SEX o PSYCHOLOGICAL SEX
Sex Determination and Differentiation
• established by genetic inheritance at the moment of fertilization
Chromosomal Sex
- development of primary sex organs (gonads) in response to genetic sex
- If you are a male/female, you should have an organ that tells you that your a male/female (testis/ovary)
Gonadal Sex
• a chromosome that determines the maleness
Y chromosome
Gonadal Sex (Male)
Sex-determining region of Y chromosome (SRY) codes for production of testis-determining factor (TDF)»_space; TDF directs differentiation of gonads into TESTES
Gonadal Sex (Female)
No Y chromosome»_space; No, Sex-determining region of Y chromosome (SRY) and testis-determining factor (TDF)»_space; undifferentiated gonads develop into OVARIES
- regulation by gonadal sex of the differentiation of the genital apparatus
- influenced mainly by genetics and hormonal factors
- determines by the presence or absence of a masculinizing hormone (testosterone)
Phenotypic or Genital Sex
- secretes testosterone and Mullerian-inhibiting factor (anti-mullerian hormone)
- transforms Wolffian ducts into internal male reproductive system
- can be converted to dihydrotestosterone that promotes the development of undifferentiated external genitalia among male lines (penis, scrotum)
Testosterone
• where the development of the internal female reproductive tract came from (eg Oviducts, Uterus)
Mullerian duct
• causes the degeneration of the Wolffian ducts and development of undifferentiated external genitalia along female lines (eg Clitoris, labia)
Absence of Testosterone
- establishment of gender role, gender identity or sexual orientation
- influenced by behavioral and cultural factors
Psychological Sex
• determined at time of fertilization when ovum and sperm unite
- genetic male (heterogametic ) = XY pattern
- genetic female (homogametic) = XX pattern
• mutation of genes on an X chromosome results in transmission of X-linked traits
*EXAMPLES: hemophilia, color blindness
Genetic Sex
• presence of the Y chromosome is the single most consistent determinant of maleness
- contains SRY gene responsible for sex determination
- necessary for testes and masculine genital pattern development
Genetic Sex
• presence of additional X chromosome does not alter fundamental maleness dictated by the Y chromosome
*EXAMPLE: Klinefelter Syndrome (XXY)
Genetic Sex
• discovered by Barr and Bertram in 1949
• one of the two copies of the X chromosome present in females is inactivated (Lyon hypothesis)
*nucleus of somatic cells of females contain a plano-convex mass adherent to inner side of nuclear membrane (sex chromatin mass or Barr body)
Sex Chromatin Test
(Sex Chromatin Test)
• presence of 1 Barr body means that an individual has 1 X chromosome in excess (2 X chromosomes total)
Normal Female
(Sex Chromatin Test)
• presence of 2 Barr bodies means that an individual has 2 X chromosomes in excess (3 X chromosomes total)
Superfemale
Specimens for Sex Chromatin Test
• NERVE CELLS • BUCCAL SMEAR (inner cheek scrapings) - if 20% positive, genetic female - if 0-4% positive, genetic male (4% error margin) • BLOOD SMEAR - presence of drumstick appendage in nucleus of neutrophils in genetic females - low positiveness (6/500 neutrophils) • VAGINAL SMEAR
• form of genetic imprinting where one of the two chromosome is inactivated so that the only one is active
Lyonization
• pluck 3-4 strands of normal scalp hair
- tease the root of hair
- stain with fluorescent stain
- look for fluorescent body (Y body)
- part of the Y chromosome present only in males (15/100 cells) and invariably absent in females
Hair Root Test
• noninvasive screening for large populations in sports competitions (eg, Olympics)
- assurance that individual joining female division sports competition is a normal genetic female
Hair Root Test
- patient has a testes and produce testosterone but despite the presence of it, it lacks of receptor for testosterone
- due to high testosterone, pt is masculine
- pt is genetically male but due to the absence of penis, pt can be mistaken as a female
Androgen Insensitivity Syndrome
- requires use of tissue culture (may take 10 days for complete processing)
- most accurate method (gold standart)
- done by geneticists
- required for patients who will undergo gender reassignment surgery (genetic sex must be determine for those who want gender reassignment or those with ambiguous genitalia)
Karyotyping
What are the 3 tests for genetic sex?
- Sex Chromatin Test
- Hair Root Test
- Karyotyping
• development of primitive gonad into either testes or ovary
- outer cortex composed of COELOMIC EPITHELIAL CELLS
- inner medulla composed of STROMAL MESENCHYME which surrounds cords of epithelial cells
• at 4th to 6th week of gestation, all embryos have bipotential gonads (potential to differentiate along either male or female lines)
Gonadal Sex
Testis-determining SRY protein initiates the production of multiple gonad medulla to differentiate into a testis which has __.
*In males, only medulla will develop and the cortex will regress.
Leydig Cells and Sertoli Cells
• secrete testosterone which controls the development of Wolffian duct into accessory structures and development of external genitalia via DHT
Leydig Cells
• secrete Anti-mullerian hormone that causes regression of Mullerian duct; responsible for the nutrition of the spermatogonia
Sertoli Cells
(Male Gonadal Development )
• embryonic __ enlarges to become the testis and embryonic cortex regresses
medulla
(Male Gonadal Development )
- formation of seminiferous tubules and Sertoli cells at 6 to 7 weeks
- formation of Leydig cells at 8 to 9 weeks
- secrete testosterone in response to HCG
- at 9 weeks, a definitive testes is present and secretion of testosterone established
• at 7 to 9 months gestation
- testes normally descend through inguinal ring
Female Gonadal Development (1)
• embryonic cortex proliferates to become the ovaries
- at weeks 11 and 12, primordial follicles are discernible
- reaches maximal development by weeks 20 to 25
Female Gonadal Development (2)
- embryonic medulla regresses and becomes the hilum of mature ovaries
- embryonic ovary does not secrete hormones
- development starts during 9th week gestation in the absence of a signal for testis formation
Phenotypic Sex development requires:
- differentiation of genital ducts (internal genitalia)
- differentiation of external genitalia
- hypothalamic differentiation
• differentiation of the internal and external genitalia requires presence of hormones or chemical messengers
Phenotypic Sex
(Control Mechanisms in Development of Phenotypic Sex)
- cells in distant endocrine gland secrete hormones into bloodstream to regulate or induce differentiation in distant target tissues
- EXAMPLE: testosterone, secreted by fetal Leydig cells, induces differentiation of anlagen of external genitalia
CLASSIC ENDOCRINE MECHANISM
(Control Mechanisms in Development of Phenotypic Sex)
- dissemination of hormone by local diffusion through the nearby target tissue
- EXAMPLES: action of MIF on Mullerian duct, action of Testosterone on Wollfian duct
LOCAL PARACRINE REGULATORY MECHANISM
(Differentiation of Internal Genitalia)
• at 7 weeks, fetus contains both male and female primordial genital ducts:
- Wolffian ducts (mesonephric duct)
2. Mullerian ducts (paramesonephric ducts)
- have the potential of differentiating into:
• epididymis
• vas deferens
• seminal vesicles
Wolffian ducts (mesonephric duct)
- serves as the anlagen of the: • uterus • fallopian tube • cervix • upper vagina
Mullerian ducts (paramesonephric ducts)
- it doesn’t mean that because you are a female you will have a uterus; you might have a congential absence of the uterus
- you did not have a mullerian duct
- 2nd/3rd common cause of the absence of menses in a teenage girl
Mayer-Rokitansky-Küster-Hauser syndrome
(Hormones Involved in Sex Differentiation)
• responsible for differentiation of Wolffian ducts to male internal genitalia at 9 to 10 weeks
• secreted by fetal Leydig cells
• does NOT have to be converted to its active product (dihydrotestosterone) to act on the Wolffian ducts
*5- reductase activity is required for conversion of testosterone to dihydrotestosterone
*cells do not develop 5- reductase activity until they have fully differentiated
TESTOSTERONE
(Hormones Involved in Sex Differentiation)
• other names: Anti-Mullerian Hormone (AMH), Mullerian Regressing Factor (MRF)
• glycoprotein hormone produced by Sertoli cells
• induces dissolution of Mullerian ducts, therefore inhibiting differentiation of female internal genitalia
MULLERIAN INHIBITING FACTOR (MIF)
Differentiation of External Genitalia
- in contrast to internal genitalia, external genitalia in both sexes develop from common anlagen
- growth and development of the male external genitalia require dihydrotestosterone
(Anlagen of External Genitalia)
- in males: becomes glans penis, corpus cavernosum and corpus spongiosum
- in females: becomes clitoris and vestibular bulb
GENITAL TUBERCLE
(Anlagen of External Genitalia)
- in males: fuse around the urethral groove to form the penis (ventral shaft)
- in females: genital folds do not fuse and develop into labia minora
GENITAL FOLDS or URETHRAL FOLDS
(Anlagen of External Genitalia)
- in males: fuse to form scrotum and prepuce
- in females: do not fuse but develop into labia majora
GENITAL SWELLING or LABIO SCROTAL SWELLING
(Anlagen of External Genitalia)
- in males: develops into male urethra, Cowper’s glands and prostate gland
- in females: develops into female urethra, lower vagina, Bartholin’s glands and Skene’s glands
UROGENITAL SINUS
Special Considerations
- in normal females, hormones may not be essential for differentiation
- growth of labia to normal size requires estrogen
Special Considerations (2)
• exposure of normal female fetus to excess testosterone during differentiation causes virilization
- if exposed early, male pattern can result
- if exposed after differentiation is completed, enlargement of clitoris may occur
• for newborn with ambiguity of external genitalia
- postpone signing of birth certificate
- do screening test
(Hypothalamic Differentiation)
• control of gonadal function is mediated by 2 gonadotropins:
o follicle-stimulating hormone (FSH)
o luteinizing hormone (LH)
(Hypothalamic Differentiation)
• gonadotropins differ in pattern of secretion:
o in males: pulsatile but relatively constant, sustained manner (tonic release)
o in females: pulsatile but cyclic (cyclic release)
(Hypothalamic-Pituitary-Gonadotropin Unit)
• includes the following:
o pulsatile secretion of (Luteinizing Hormone Releasing Hormone) LHRH by hypothalamus
o pulsatile secretion of Follicle stimulating hormone (FSH) and Luteinizing Hormone (LH) by pituitary
(Hypothalamic-Pituitary-Gonadotropin Unit)
• characteristics:
o matures in the fetus
o suppressed during childhood
o reactivated at onset of puberty
Gonad (Cortex)
Male: Regresses
Female: Ovaries
Gonad (Medulla)
Male: Testis
Female: Regresses
Wolffian Duct (mesonephric duct)
Male: Epididymis, Vas Deferens, Seminal Vesicle
Female: Regresses
Mullerian Duct (paramesonephric duct)
Male: Regresses
Female: Fallopian tubes, uterus, cervix, vagina (upper 1/3)
Genital Tubercle
Male: Glans penis, corpus cavernosum/ spongiosum
Female: clitoris, vestibular bulb
Genital Folds
Male: Penis (ventral shaft)
Female: Labia minora
Genital Swelling
Male: Scrotum, prepuce
Female: Labia majora
Urogenital Sinus
Male: Male urethra, cowper’s gland, prostate gland
Female: Female urethra, lower vagina, Bartholin’s gland, Skene’s gland
Defect in the fusion of the genital fold will result to an orifice in the ventral portion of the penis which is called __
Hypospadia
If the baby is genetically female but exposed to high levels of testosterone in utero, what will be the result?
Labia minora will fuse (Labial fusion)
- identification of self as either male or female
- applicable only to humans
- formed in early childhood
- independent of hormonal regulation and even of the phenotype of the individual
- depend on rearing cues and cultures
- considered as socially, culturally, historically and psychologically determined
Psychological Sex or Gender Identity
- exact biologic basis has not been discovered
* region Xq28 of the X chromosome has been controversially dubbed as the “gay gene”
Homosexuality
(Homosexuality)
• brain studies reveal:
o 1.7x larger superchiasmatic nucleus in homosexual males
o anterior commissure is 18% larger in heterosexual females and 34% larger in heterosexual males
- established defect in gametogenesis
* chromosomes fail to separate therefore both go to one of the daughter cells during meiosis, the other has none
Nondisjunction
• complete absence of one sex chromosome (Barr body)
*leads to monosomy X (XO genotype)
• short stature (
Turner Syndrome (Monosomy X)
- meiotic nondisjunction leads to a 47, XXY genotype
- testicular atrophy
- eunuchoid body shape
- tall, long extremities
- gynecomastia
- female hair distribution
Klinefelter Syndrome
- only one X chromosome is active (two Barr bodies are present)
- usually no distinguishable difference between triple X and normal females (some studies show increased risk for menstrual irregularities and learning disorders)
Superfemale (Triple X Syndrome)
- disorder of sexual differentiation
* born with both ovarian and testicular tissues
Hermaphroditism
Hermaphroditism: two types
- true hermaphrodites - functional gonads
* pseudohermaphrodites - phenotype and genotype do NOT match (nonfunctional gonads)
- genetic males whose target cells lack receptors for testosterone are feminized
- male pseudohermaphrodites (male genotype, female phenotype)
Testicular Feminization (Androgen Insensitivity)
• adrenal androgen overproduction in the fetus
• female pseudohermaphrodites
*female genotype, male phenotype
*virilization of an XX fetus
*ambiguous genitalia
• lack of testosterone (cortisol pathway is not favored but only the androgen pathway is favored)
Congenital Adrenal Hyperplasia (Adrenogenital Syndrome)
- only hormone that can produce a negative feedback in the hypothalamus-pituitary
- because of lack of this hormone, there is a continuous production of ACTH causing virilization
Cortisol
The two most basic components of the reproductive system are __.
the gonads and the reproductive tract
The gonads (testes and ovaries) perform an endocrine function, which is regulated within a __. The gonads are distinct from other endocrine glands in that they also perform an exocrine function (gametogenesis).
hypothalamic-pituitary-gonadal axis
Most common problem in lack of estrogen is __.
nondevelopment of the breast bud
The __ is involved in several aspects of gamete development, function, and transport and, in women, allows fertilization, implantation, and gestation.
reproductive tract
Male Reproductive System: 3 FUNCTIONS
- Spermatogenesis
- Performance of the male sexual act
- Regulation of male reproductive function through hormones (Hormones also affect cellular metabolism and growth)
(Male Reproductive Tract)
- Contains Seminiferous tubules
TESTIS
(Male Reproductive Tract)
- Coiled tube of 6 meters long
- Enables motility of sperm (for 18-24 hours
EPIDIDYMIS
(Male Reproductive Tract)
- Ampulla of the vas deferens
- Stores sperm
VAS DEFERENS
(Male Reproductive Tract)
- Walnut-shaped
PROSTATE GLAND
(Male Reproductive Tract)
- Forms the EJACULATORY DUCT with the ampulla of the vas deferens
SEMINAL VESICLES
(Male Reproductive Tract)
- External connection of testis to the external environment
- Supplied with mucus derived urethral glands and bulbourethral glands
URETHRA
- Formation of sperm
- Occurs in the seminiferous tubules
- Starts at puberty at around 13 years and occurs throughout life
SPERMATOGENESIS