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Physiology > Repro: Sex Determination & Differentiation > Flashcards

Repro: Sex Determination & Differentiation Flashcards

0
Q

Organized structure of DNA & protein. Coiled DNA containing many genes, regulatory elements and other nucleotide sequences.

A

Chromosome

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1
Q

Humans display ________. Females and males are physically distinct.

A

Sexual dimorphism

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2
Q

Produce gametes and sex hormones

A

Gonads

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3
Q

Male gonads (testes) produce

A

Sperm

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4
Q

Female gonads (ovaries) produce

A

Eggs/ova

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5
Q

Humans have how many pairs of chromosome

A

23

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6
Q

Chromosomes: 22 pairs of ________ & 1 pair of _________.

A

Autosomes. Sex chromosomes.

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7
Q

Contain two complete sets of chromosomes. Example.

A

Diploid cells (2n). Somatic cells.

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8
Q

Contain one complete set of chromosomes. Example.

A

Haploid cells (n). Gametes/sex cells.

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9
Q

Complete set of genetic information (diploid) is distributed to each of two daughter cells. Observed in ________.

A

Mitosis. Somatic cells.

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10
Q

Only a half set of genetic information (haploid) is distributed to each of four daughter cells. Observed in _______.

A

Meiosis. Gametes.

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11
Q

Process of genetic inheritance that sets the gender of an individual at the moment of ________.

A

Sex determination. Fertilization.

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12
Q

Development of differences between males and females from an undifferentiated _______.

A

Sex differentiation. Zygote.

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13
Q

Sequential process of establishment of sex and sexual difference. Includes the process that determine:

A

Sex determination & differentiation. Chromosomal/Genetic, Gonadal, Phenotypic/Genital & Psychological sex. “C G PP”

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14
Q

Established by genetic inheritance at the moment of fertilization

A

Chromosomal sex

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15
Q

Male: embryo with ____ chromosomes.

A

XY

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16
Q

Female: embryo with ____ chromosomes.

A

XX

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17
Q

Depends on the combination of sex chromosomes

A

Genetic sex

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18
Q

Development of primary sex organs in response to genetic sex

A

Gonadal sex

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19
Q

Gonadal sex is determined by

A

Presence/Absence of SRY gene

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20
Q

Sex determining region of Y chromosome (SRY) codes for production of

A

Testis Determining Factor “TDF”

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21
Q

TDF directs differentiation of gonads

A

Testes

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22
Q

Female has no

A

Y chromosome, so no SRY & TDF

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23
Q

With no TDF, undifferentiated gonads in females develop into

A

Ovaries

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24
Q

Regulation by gonadal sex of the differentiation of the genital apparatus. Influenced mainly by _______ & _______.

A

Phenotypic/Genital sex. Genetics & Hormonal factors.

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25
Q

Testes secrete

A

Testosterone & Mūllerian-inhibiting factor

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26
Q

Testosterone is converted to

A

Dihydrosterone

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27
Q

Dihydrosterone promotes development of undifferentiated __________ along male lines. Example.

A

External genitalia. Penis & Scrotum.

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28
Q

Testosterone transforms _________ into male reproductive tract. Example.

A

Wolffian ducts. Seminal vesicles, Epididymis, Ductus deferens & Ejaculatory duct “SEDE”

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29
Q

Causes the degeneration of Mullerian ducts

A

Mūllerian-inhibiting factor

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30
Q

Non testosterone and mūllerian-inhibiting factor secreted

A

Ovaries

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31
Q

Absence of Mūllerian-inhibiting factor will lead to development of _________ into female reproductive tract. Example.

A

Mūllerian ducts. Oviducts & Uterus.

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32
Q

In female, Absence of testosterone will lead to the degeneration of

A

Wolffian ducts

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33
Q

In females, absence of testosterone will lewd to development of _____________ along female lines. Example.

A

Undifferentiated external genitalia. Clitoris & Labia.

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34
Q

Establishment of gender role, gender identity and sexual orientation. Influenced by _______ & _______ factors.

A

Psychological sex. Behavioral & Cultural.

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35
Q

Determined at a time of fertilization when ovum and sperm unite

A

Genetic sex

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36
Q

Genetic male (_______) = ____ pattern.

A

Heterogametic. XY.

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37
Q

Genetic female (_______) = ____ pattern.

A

Homogametic. XX.

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38
Q

Mutation of genes on an X chromosome results in transmission of. Example.

A

X-linked traits. Hemophilia & Color blindness.

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39
Q

Presence of _________ is the single most consistent determinant of maleness. Contains ________ responsible for sex determination. Necessary for testes and masculine genital pattern development.

A

Y chromosome. SRY gene.

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40
Q

Presence of additional _________ does not alter fundamental maleness dictated by Y chromosome. Example.

A

X chromosome. Klinefelter syndrome (XXY)

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41
Q

Discovered by Barr & Bertram in 1949. One of the two copies of the X chromosome present in females is inactivated ( ______ hypothesis)

A

Sex Chromatin Test. Lyon.

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42
Q

In Sex Chromatin Test, nucleus of somatic cells of females contain a plano-convex mass adherent to inner side of nuclear membrane known as

A

Sex chromatin mass/Barr body

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43
Q

In Sex Chromatin Test, presence of 1 Barr body means that an individual has 1 X chromosome in excess ( ___ X chromosomes total). Result is

A
  1. Normal female.
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44
Q

In Sex Chromatin Test, presence of 2 Barr bodies means that an individual has 2 X chromosome in excess ( ___ X chromosomes total). Result is

A
  1. Super female.
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45
Q

Specimens for Chromatin Test

A

Nerve cells, Buccal smear, Blood smear & Vaginal smear. “NBBV”

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46
Q

In buccal smear, _______ scraping.

A

Inner cheek

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47
Q

In buccal smear, if 20% positive

A

Genetic female

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48
Q

In buccal smear, if 0-4% positive

A

Genetic male (4% error margin)

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49
Q

In blood smear, presence of ___________ in nucleus of neutrophils in genetic females. Low positiveness (6/500 neutrophils)

A

Drumstick appendage

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50
Q

Noninvasive screening for large populations in sports competition. Assurance that individual joining female division sport competition is a normal genetic female.

A

Hair root test

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51
Q

In hair root test, Pluck ____ strands of normal scalp hair. Tease the rooth hair, stain with fluorescent stain, look for _________. Part of the Y chromosomes present only in _____ (15/100 cells) and invariably absent in _________.

A

3-4 strands. Fluorescent body. Males. Females.

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52
Q

Requires use of tissue culture. Most accurate method, Gold standard. Done by geneticists. Required for patients who will undergo gender reassignment surgery.

A

Karyotyping

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53
Q

Must be determined for those who want gender reassignment or those with ambiguous genitalia.

A

Genetic sex

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54
Q

Karyotyping duration before results are available

A

10 days

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55
Q

Three test for genetic sex

A

Sex Chromatin Test, Hair Root Test & Karyotyping.

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56
Q

Development of primitive gonad into either testes or ovary

A

Gonadal sex

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57
Q

In Gonadal sex, outer cortex is composed of

A

Coelomic epithelial cells

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58
Q

In Gonadal sex, inner medulla is composed of _________ which surrounds cords of epithelial cells.

A

Stromal mesenchyme.

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59
Q

At what week of gestation do all embryos have potential gonads

A

4-6 weeks

60
Q

SRY gene produces this which initiates the production of multiple proteins that cause gonad medulla to differentiate into a testis.

A

Testis-determing SRY protein

61
Q

Secrete testosterone. Controls development of Wolffian duct into accessory structures and male external genitalia via _____.

A

Leydig cells. DHT.

62
Q

Secrete Anti-Mūllerian hormone which causes regression of Mūllerian duct.

A

Sertoli cells

63
Q

In male gonadal development: enlarges to become the testis.

A

Embryonic medulla

64
Q

In male gonadal development: it regresses

A

Embryonic cortex

65
Q

In male gonadal development: at what week do the formation of Seminiferous tubules and Sertoli cells occur

A

6-7 weeks

66
Q

In male gonadal development: formation of Leydig cells at what week

A

8-9 weeks

67
Q

In male gonadal development: Leydig cells secrete _____ in response to ____.

A

Testosterone. HCG.

68
Q

In male gonadal development: at what week does a definitive testes is present and secretion of testosterone is established

A

9 weeks

69
Q

In male gonadal development: testes descend normally through inguinal ring in what month

A

7-9 months of gestation

70
Q

In female gonadal development: ________ proliferates to become ovaries.

A

Embryonic cortex

71
Q

In female gonadal development: at what week do primordial follicles are discernible

A

Weeks 11-12

72
Q

In female gonadal development: ovaries reaches maximal development by

A

Weeks 20-25

73
Q

In female gonadal development: regresses and become the hilum of mature ovaries

A

Embryonic medulla

74
Q

In female gonadal development: development starts during ______ in the absence of signal for testis formation.

A

9th week of gestation

75
Q

Development of phenotypic sex requires

A

Differentiation of genital ducts, external genitalia & hypothalamic

76
Q

Differentiation of the internal and external genitalia requires presence of ________ & ___________.

A

Hormones & Chemical messengers

77
Q

Cells in distant endocrine gland secrete hormones into bloodstream to regulate or induce differentiation in distant target tissues.

A

Classic Endocrine Mechanism

78
Q

Example of Classic Endocrine Mechanism: testosterone secreted by _________, induces differentiation of anlagen of ________.

A

Fetal leydig cells. External genitalia.

79
Q

Dissemination of hormone by local diffusion through the extracellular spaces.

A

Local Paracrine Regulatory Mechanism

80
Q

Example of Local Paracrine Regulatory Mechanism: Action of ____ on Mūllerian duct. Action of testoterone on _________.

A

MIF. Wolffian duct.

81
Q

At what week does fetus contains both male and female primordial genital ducts

A

7th week

82
Q

Have the potential of differentiating into seminal vesicles, epididymis & vas deferens.

A

Wolffian duct/Mesonephric duct

83
Q

Serves as the anlagen of the fallopian tube, uterus, cervi & upper vagina

A

Mūllerian duct/Paramesonephric duct

84
Q

In a male embryo, directs the medulla of the bipotential gonad to develop into testis

A

SRY protein

85
Q

Cause the Mūllerian ducts to disappear

A

Anti-Mūllerian hormone

86
Q

Coverts Wolffian duct into seminal vesicle, epididymis & vas deferens

A

Testosterone

87
Q

Controls prostate development

A

DHT

88
Q

Becomes ovary in the absence of SRY protein

A

Gonadal cortex

89
Q

Cause Wolffian duct to degenerate

A

Absence of testosterone

90
Q

Absence of Anti Mūllerian hormone allows the _________ to become the fallopian tube, uterus, cervi & upper vagina.

A

Mūllerian duct

91
Q

Responsible for differentiation of Wolffian ducts to male internal genitalia at ________. Secreted by _______. Does not have to be converted to its active product (________) to act on Wolffian ducts.

A

Testosterone. 9-10weeks. Fetal Leydig cells. Dihydrotestosterone.

92
Q

Glycoprotein hormone secreted by _________. Induces dissolution of Mūllerian ducts, therefore inhibiting differentiation of female internal genitalia.

A

MIF. Sertoli cells.

93
Q

In contrast with internal genitalia, external genitalia in both sexes develop from common _______.

A

Anlagen.

94
Q

Growth and development of the male external genitalia require

A

Dihydrotestosterone

95
Q

In males: becomes glans penis, corpus cavernosum & corpus spongiosum.

A

Genital tubercle

96
Q

In males: fuse around the urethral groove to form the penis (ventral shaft)

A

Genital/Urethral folds

97
Q

In males: fuse to form scrotum and prepuce

A

Genital/Labioscrotal swelling

98
Q

In males: develops into prostate gland, male urethra & cowper’s gland.

A

Urogenital sinus

99
Q

In females: develops into female urethra, bartholin’s gland, lower vagina & skene’s glands.

A

Urogenital sinus

100
Q

In females: do not fuse but develop into labia majors

A

Genital/Labioscrotal swellin

101
Q

In females: genital folds do not fuse and develop into labia minora.

A

Genital/Urethral folds

102
Q

In females: becomes clitoris and vestibular bulb.

A

Genital tubercle

103
Q

In normal females, hormones may not be _______ in differentiation.

A

Essential

104
Q

Growth of labia to normal size requires

A

Estrogen

105
Q

Exposure of normal female fetus to excess testosterone during differentiation causes

A

Virilization

106
Q

In virilization: if exposed early, may result to

A

Male pattern

107
Q

In virilization: if exposed after differentiation may result to

A

Enlargement of clitoris

108
Q

For newborn with ambiguity of external genitalia

A

Postpone signing of Birth certificate & do screening test

109
Q

In hypothalamic differentiation, control of gonadal function is mediated by 2 gonadotrophins namely

A

FSH & LH

110
Q

Pattern of gonadotrophin secretion in males, pulsatile but relatively constant sustained manner.

A

Tonic release

111
Q

Pattern of gonadotrophin secretion in females, pulsatile but cyclic

A

Cyclic release

112
Q

Hypothalamic-Pituitary-Gonadotrophin Unit: pulsatile secretion of LHRH by

A

Hypothalamus

113
Q

Hypothalamic-Pituitary-Gonadotrophin Unit: pulsatile secretion of FSH & LH by

A

Pituitary

114
Q

Hypothalamic-Pituitary-Gonadotrophin Unit features: matures in _____. Supressed during _______. And Reactivated at the onset of _______.

A

Fetus. Childhood. Puberty.

115
Q

In males: gonadal cortes

A

Regresses

116
Q

In males: gonadal medulla forms

A

Testis

117
Q

In males: Wolffian duct forms

A

Seminal vesicle, Epididymis & Vas deferens “SEV”

118
Q

In males: Mūllerian duct

A

Regresses

119
Q

In males: Genital tubercle forms

A

Glans penis, Corpus Cavernosum & Corpus Spongiosum “GCC”

120
Q

In males: Genital folds form

A

Penis (ventral shaft)

121
Q

In males: Genital swelling forms

A

Scrotum & Prepuce “SP”

122
Q

In males: Urogenital sinus forms

A

Prostate gland, Male urethra & Cowper’s gland “PMC”

123
Q

In females: gonadal cortex forms

A

Ovaries

124
Q

In females: Gonadal medulla

A

Regresses

125
Q

In females: Wolffian duct

A

Regresses

126
Q

In females: Mūllerian duct forms

A

Fallopian tube, Uterus, Cervi & Upper vagina “FUC U”

127
Q

In females: Genital tubercle forms

A

Vestibular bulb & Clitoris “VC”

128
Q

In females: Genital folds form

A

Labia minora

129
Q

In females: Genital swelling forms

A

Labia majora

130
Q

In females: Urogenital sinus forms

A

Female urethra, Bartholin’s gland, Lower vagina & Skene’s gland “FBLS”

131
Q

Psychological sex or Gender identity: ________ as either male or female. Applicable only to _______. Formed in ________.

A

Identification. Humans. Early childhood.

132
Q

Psychological sex or Gender identity: independent of _________ and even ______ of the individual.

A

Hormonal regulation. Phenotype.

133
Q

Psychological sex or Gender identity: dependent on rearing ______ and ________.

A

Cues. Culture.

134
Q

Considered as socially, culturally, historically and psychologically determined

A

Psychological sex or Gender identity

135
Q

Exact biologic basis has not been established

A

Homosexuality

136
Q

In homosexuality, region _____ of the X chromosome has been controversially dubbed as the gay gene.

A

Xq28

137
Q

In homosexuality, brain studies reveal: 1.7x larger ___________ in homosexual males. ________ is 18% larger in heterosexual females and 14% larger in heterosexual males.

A

Suprachiasmatic nucleus. Anterior commissure.

138
Q

Established defect in gametogenesis. Chromosomes fail to separate therefore both go to one of the daughter cells during meiosis the other has none.

A

Nondisjunction

139
Q

Complete absence of one sex chromosome (Barr body). Leads to monosomy X _______. Short stature

A

Turner syndrome. XO genotype. Shield chest.

140
Q

Meiotic disjunction leads to a _______. Testicular atrophy, eunuchoid body shape, tall long extremities, gynecomastia and female hair distribution.

A

Klinefelter syndrome. 47 XXY genotype.

141
Q

Only one X chromosome is active, two Barr bodies are present. Usually no distinguishable difference between triple X and normal females. Some says increased risk for menstrual irregularities and ________.

A

Superfemale/Triple X syndrome. Learning disorders.

142
Q

Disorder of sexual differentiation. Born with both ovarian and testicular tissues.

A

Hermaphroditism

143
Q

Type of Hermaphroditism: functional gonads

A

True hermaphroditism

144
Q

Type of Hermaphroditism: phenotype & genotype do NOT match (nonfunctional gonads)

A

Pseudohermaphrodites

145
Q

Genetic males whose target cells lack receptors for testosterone are feminized. _______ insensitivity.

A

Testicular feminization. Androgen.

146
Q

Male genotype, Female phenotype

A

Male pseudohermaphrodites

147
Q

Adrenal androgen overproduction in the fetus. Female pseudohermaphroditism: female genotype, male phenotype, Virilization of an XX fetus and ambiguous genitalia.

A

Congenital Adrenal Hyperplasia

Physiology (4 decks)

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