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RDS Test 1 > B8.002 Development of the Reproductive System > Flashcards

B8.002 Development of the Reproductive System Flashcards

1
Q

conditions with gonadal failure

A

klinefelters (XXY)
turner (XO)
triple X females (XXX)

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2
Q

gonadal migration failures

A

hydrocele
cryptorchidism
congenital inguinal hernia

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3
Q

mullerian duct defects

A

abnormal uterine forms

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4
Q

penile defects

A

hypospadias

epispadias

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5
Q

disorders of sexual development

A

ambiguous external genitalia
congenital adrenal hyperplasia (females)
androgen insensitivity syndrome (males)
5 alpha reductase deficiency (males)

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6
Q

for the first 6 weeks of human life…

A

no known phenotypic difference between males and females

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7
Q

genetic sex

A

determined at fertilization/conception by the sperm

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8
Q

gonadal sex

A

determined at about the 6th embryonic week when a bipotential gonad is induced to form either a testis by the SRY gene (on Y chromosome) or an ovary

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9
Q

phenotypic sex

A

determined from the 7th embryonic week through birth and on to puberty
full differential requires proper hormone function

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10
Q

psychological sex

A

imprinting and learning of sexual behavior
timing likely parallels behind phenotypic sexual development and both gender identity and sexual preference occur over a lifetime

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11
Q

components of psychological sex

A
  1. gender identity
  2. gender roles
  3. gender orientation, the choice of sex partners
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12
Q

what determines sex?

A

SPERM
can be X or Y
eggs can only be X

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13
Q

X chromosome genes

A

essential for human life
2000 genes
one X randomly and permanently inactivated in females
just another reason that i don’t understand why historically men are regarded as the superior sex like we literally don’t even need their stupid DNA to survive but its fine its fine i wonder if we could take 2 X eggs and mush them together and eliminate the need for sperm altogether? like why are they even necessary

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14
Q

turner syndrome

A

X sperm + O egg
gonadal dysgenesis
95% of infants are spontaneously aborted in the 1st trimester

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15
Q

triple X syndrome

A

X sperm + XX egg

phenotypically normal

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16
Q

lethal abnormal meiotic event

A

Y sperm + O egg

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17
Q

klinefelters

A

Y sperm + XX egg
extra X inhibits testis development
seminiferous tubule dysgenesis

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18
Q

Y chromosome genes

A

60 genes
23 proteins
holandric traits

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19
Q

extra X chromosome

A

whether in males or females, often associated with an increased risk of learning disabilities and delayed development of speech and language skills

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20
Q

phenotypes of XXX females

A

may be taller than normal
may produce normal offspring
delayed development of motor skills, weak muscle tone, and behavioral and emotional difficulties are possible, but vary widely among those affected
premature ovarian failure (< 40) is common
90% NOT DIAGNOSED AS THEY HAVE NO OR FEW SYMPTOMS

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21
Q

klinefelters phenotype

A 
small to normal penis
small testicles (spermatogenesis not functional when extra X is present in germ line)
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22
Q

turner syndrome phenotype

A

half have puffy hands and feet at birth in addition to wideness and webbing of neck (50% diagnosed at birth)
adults: infertility, short stature, lymphedema, webbed skin behind neck, low airline, widely spaced nipples, small breasts, brown spots, small finger nails, horseshoe kidney (15%), ovarian failure
normal puberty doesn’t occur without hormone therapy
NORMAL INTELLIGENCE

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23
Q

cardio effects of turner

A

coarctation of the aorta (1 in 15)
bicuspid aortic valve
aortic dissection in adulthood

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24
Q

risks of egg donation in turner

A

only 40% of pregnancies normal

high risk endeavor

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25
Q

male genetic signals

A

SRY
SOX9
SF1

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26
Q

female genetic signals

A

WNT4
DAX1
TAFII 105

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27
Q

3 cell types from which the gonads develop

A
  1. coelomic (future peritoneal cavity lining)
  2. underlying mesenchyme from intermediate mesoderm (mesonephros)
  3. primordial germ cells which migrate from the yolk sac
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28
Q

origin of wolffian duct

A

mesonephric duct (2nd kidney stage)

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29
Q

origin of mullerian duct

A

paramesonephric duct
develops as an invagination of the coelomic epithelium
why oviducts are open to the peritoneal cavity

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30
Q

oogonia

A

primordial germ cells within the developing ovary
10% of cells within the ovary by weeks 7-9
divide mitotically

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31
Q

follicular cell origin

A

mesenchymal cells surround oogonia and become follicular cells
enter a protracted stage of meiosis

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32
Q

oocytes

A

female germ cell in meiosis

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33
Q

primordial follicles

A

oocytes surrounded by flattened follicular cells

first seen at week 14

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34
Q

what happens if an oocyte isnt surrounded by follicular cells?

A

apoptosis

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35
Q

steroid influence on ovarian development

A

little steroid production by fetal ovary

is NOT necessary for development of female tubular/ductal structures or female external genitalia

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36
Q

3 step overview of ovarian development

A
  1. ovarian development lags slightly behind testicular development
  2. cortical sex cords differentiate into follicular cells and incorporate primordial germ cells, which will subsequently form oogonia. surrounding follicular cells inhibit completion of meiosis until puberty
  3. clusters of follicular cells surround the central oogonium and inhibit female germ cells in the first meiotic division
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37
Q

primordial germ cells that enter the gonad at 6th week

A

1,300

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38
Q

oocytes at 20th week

A

300,000

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39
Q

oocytes at birth

A

295,000

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40
Q

oocytes at puberty

A

180,000

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41
Q

ovulated eggs during reproductive years

A

500

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42
Q

oocytes at menopause

A

0

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43
Q

importance of AMH levels

A

anti mullerian hormone
expressed in granulosa cells of growing follicles
expression highest in preantral and small antral follicles
levels decrease with age in premenopausal women
levels correlate strongly with # of antral follicles, aka they can reflect the size of your primordial follicle pool

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44
Q

relationship between genital system and urinary system

A

close conjunction

male accessory repro organs develop from embryonic urinary system structures

45
Q

inherent phenotype

A

FEMALE
THE FUTURE IS FEMALE
#FEMINISM

46
Q

function of AMH in males

A

suppresses female structures

comes from testicular sertoli cells

47
Q

what does the paramesonephric (mullerian) duct form in females

A

oviducts
uterus
upper 1/5 of vagina

48
Q

outline the development of the non gonadal female reproductive organs

A

caudal ends of paramesonephric ducts grow together as they join the urogenital sinus, forming a joint midline structure, the uterovaginal primordium
uterovaginal primordium forms 1/5 of the vagina and the cervix and uterus
where the uterovaginal primordium meets the urogenital sinus, it induces the sinusal tubercle forming the distal 4/5 of the vagina

49
Q

discuss the presence of vestigial structures formed from urogenital ducts

A

in both males and females, remnant of embryonic urogenital structures can be present and cause little or no harm

50
Q

female remnant of mesonephric ducts that did not undergo complete apoptosis

A
  1. paroophoron
  2. epoophoron
  3. duct of Gartner
51
Q

male remnants of paramesonephric ducts

A

appendix of the testis

52
Q

prevalence of congenital uterine anomalies

A

5% of women

10% of women with recurrent pregnancy loss

53
Q

examples of congenital uterine abnormalities

A 
midline septum (septate uterus)
Y shaped (bicornate uterus)
one horn (unicornate uterus)
double uterus (didelphys)
54
Q

midline septum problems

A

reduced fertility levels and 1st trimester loss

55
Q

bicornate/unicornate uterus problems

A

low birth size and premature delivery

56
Q

cloaca

A 
expansion of rectum
separated into:
1. urogenital sinus
2. rectum 
separated by formation of 3 folds (collectively the urorectal septum)
1. superior Tourneux
2. L and R Rathkes
57
Q

subdivision of urogenital sinus in females

A
  1. sinovaginal bulbs: form distal 4/5 of vagina from sinusal tubercle
  2. urethra and bladder
58
Q

why should you check newborns for the presence of an anus?

A

may have:

  • rectoprostatic urethral fistula
  • rectocloacal canal
  • rectovaginal fistula
59
Q

how is the broad ligament formed

A

fusion of paramesonephric ducts from each side bringing together peritoneal folds
ovaries located on posterior surface

60
Q

vesicouterine pouch

A

anterior to uterus

61
Q

rectouterine pouch

A

posterior to uterus

62
Q

function of the broad ligament

A

supports the uterus in the midline

63
Q

overview of development of the testis

A

primordial germ cells (gonocytes) migrate into the gonadal ridge
mesenchymal cells surround PGCs and differentiate into sertoli cells
this combo forms sex cords, the precursors to seminiferous tubules
mesenchymal cells also differentiate into interstitial Leydig cells between developing sex cords

64
Q

function of embryonic sertoli cells

A

produce AMH

prevents femal reproductive structures from forming from the mullerian ducts by inducing apoptosis

65
Q

function of embryonic leydig cells

A

produce testosterone
induces male reproductive structure differentiation from the mesonephric duct structures (rescuing them from spontaneous apoptosis in normal females)

66
Q

function of dihydrotestosterone in embryonic testis

A

external genitalia formation

more potent than regular testosterone

67
Q

structures derived from the mesonephric (wolffian) duct

A

epididymis
vas deferens
ejaculatory duct
seminal vesicle

68
Q

origin of prostate gland

A

develops from invagination of prostatic urethra (urogenital sinus endoderm)

69
Q

describe the differential migration of growing mesonephric ducts and ureter

A

mesonephric ducts continue to migrate inferiorly, ending up opening within the prostatic urethra, inferior to the bladder into the urethra
future vas deferens opens through the prostate gland into the urethra

70
Q

two ligaments involved in descent of gonads

A
  1. superior suspensory ligament

2. gubernaculum

71
Q

describe the gubernaculum

A

extends from inferior pole of the gonad through the inguinal canal into the labioscrotal swellings
does not contain muscle, but rather a band of mesenchymal tissue
“pulling” = lack of growth while the embryo gets bigger

72
Q

processus vaginalis

A

extension of peritoneum
hernaties through the abdominal wall just anterior to the path of the gubernaculum
carries layers of the extensions of the abdominal wall that will form the layers of the inguinal canal and in males the coverings of the spermatic cord and testis

73
Q

final descent of testis into scrotum

A

mediated by T and insulin like growth factor 3 from leydig cells
hiccups or uterine contractions help push testes

74
Q

deep inguinal ring

A

opening in transversalis fascia

75
Q

superficial inguinal ring

A

opening in external oblique aponeurosis

76
Q

when do the testes migrate to the deep inguinal ring?

A

7th month

takes about 4-5 days to get through inguinal canal

77
Q

locations of cryptorchid testes

A 
not all the way descended at birth
62% are within the inguinal canal
26% within abdominal cavity
8% at deep inguinal ring
4% at superficial inguinal ring
78
Q

orchioplexy

A

placing testicle into scrotum
should be performed prior to 1 year of age for maximal changes of fertility
if child reaches 10, remove testicle due to cancer risk

79
Q

cryptorchidism

A

failure of full descent of testes into scrotum

2-3% of full term newborns

80
Q

hydrocele

A

persistent processus vaginalis large enough to only permit passage of peritoneal fluid
1-2% of newborn males
normally resolve in a few months

81
Q

congenital inguinal hernia

A

persistent processus vaginalis that allows herniation of intestine into scrotum
1-2% of baby boys
spontaneously resolve by 2 years in some cases

82
Q

layers in adult scrotum

A

from outer to inner

  1. external abdominal oblique&raquo_space;>external spermatic fascia
  2. internal abdominal oblique&raquo_space;> cremasteric fascia and muscle
  3. transversus abdominus (doesn’t contribute to scrotum)
  4. transversalis fascia&raquo_space;> internal spermatic fascia
83
Q

descent of the ovaries

A

gubernaculum guides ovaries into the pelvis and forms the proper ligament of the ovary and round ligament of the uterus

84
Q

female hydrocele

A

fluid collection along the canal of nuck (around round ligament of the uterus as it passes through the anterior abdominal wall into the labia majora)

85
Q

4 common embryonic structures to external genitalia of both sexes

A

genital tubercle
urogenital folds
urethral groove
labioscrotal swelling

86
Q

genital tubercle derivative

A

female: clitoris
male: penis (glans)

87
Q

urogenital fold derivatives

A

female: labia minora
male: penis body/shaft

88
Q

urogenital groos derivatives

A

female: opening of urethra and vagina
male: opening of urethra

89
Q

labioscrotal swelling derivatives

A

female: labia majora
male: scrotal wall

90
Q

hypospadia

A

failure of fusion of the urogenital fold to meet in a midline
opening of the urethra on the ventral surface of the penis or scrotum
1 in 125 male births

91
Q

epispadia

A

opening on the dorsal surface of the penis
more unusual than hypospadia
1 in 30,000 males

92
Q

should you circumcise boys w hypo/epispadias?

A

no

need foreskin for repair

93
Q

how are hypospadias classified

A

location of the meatus

94
Q

what is a disorder of sex development (DSD)

A

discrepancy between external and internal genitals

“hermaphrodite”

95
Q

true hermaphrodism

A

individual born with ovarian and testicular tissue

extremely rare

96
Q

pseudohermaphroditism

A

child is born with external genitalia that doesn’t match the expected gonadal tissue present
DSD

97
Q

46, XX intersex

A

chromosomes of a woman, ovaries of a woman, but external genitals that appear male
female fetus exposed to excess males before birth

98
Q

causes of 46, XX intersex

A

congenital adrenal hyperplasia (most common)
male hormones taken or encountered by mother during pregnancy
testosterone producing tumor (often ovarian) in mother

99
Q

pathogenesis of congenital adrenal hyperplasia

A

defects in cortisol pathway in adrenal results in excess production of ACTH hormones and an excessive stimulation of adrenal fetal cortex
this leads to androgen production which tends to masculinize the external genitalia of genetic females
**male infants have no unusual phenotpe
1 in 15,000

100
Q

genetics of CAH

A

autosomal recessive
95% of the time due to defective 21 hydroxylase which causes reduced aldosterone and cortisol and excess levels of adrenal androgens

101
Q

other symptoms of CAH (not related to genitalia)

A 
high rate of sodium loss in urine (due to lack of aldosterone) > dehydration
hyperkalemia
metabolic acidosis
cortisol deficiency
poor weight gain
vomiting
102
Q

fate of children with CAH

A

vomiting, severe dehydration, and circulatory collapse by 2-3rd week of life

103
Q

treatment of CAH

A

mineralocorticoids
karyotyping to determine sex
generally females are not surgically altered until female grows old enough to participate in decision making

104
Q

46, XY intersex

A

chromosomes of a man
external genitals incompletely formed, ambiguous, or female
internal testes may be normal, malformed, or absent

105
Q

causes of 46, XY intersex

A 
problems with testes (not producing hormones)
problems with T receptor
problems with T 
formation
AIS
106
Q

androgen insensitivity syndrome

A

most common cause of 46, XY intersex
hormones are normal, but receptors to male hormones dont function properly
over 150 different defects in androgen receptor have been identified
phenotypic females, no internal structures (no androgen function to create male structures, but AMH still present to inhibit female structure)

107
Q

appearance of individuals with 5-alpha reductase deficiency

A

cause of 46, XY intersex
can have either normal male external genitalia, ambiguous genitalia,or normal female genitalia
have internal male structures but usually have female external genitalia
often raised as girls

108
Q

function of 5-ARD

A

converts T > DHT

DHT helps masculinize external genitalia

109
Q

puberty in 5-ARD deficient individuals

A

some individuals experience masculinization

approx 60% choose to then live as males

RDS Test 1 (22 decks)

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