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Reproductive And Development > 2-19-16-Embryology Of The Genital System (Cole) > Flashcards

2-19-16-Embryology Of The Genital System (Cole) Flashcards

1
Q

When can male and female external genitalia be recognized?

A

Week 12

Phenotypic differentiation complete at week 20

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2
Q

Primordial germ cells from ___ of the yolk sac invade the dorsal mesentery and migrate to urogenital ridges. This migration is guided by ___ receptor and ___ ligand expressed on primordial germ cells

A

endoderm

c-kit

Stem cell factor (c-kit ligand)

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3
Q

__ has a normal set of sex chromosomes (i.e., 46, XX or 46, XY), as opposed to those disorders that result from missing all or part of the 2nd sex chromosome

A

Pure gonadal dysgenesis (PGD)

Pts with PGD have a normal karyotype but may have defects of a specific gene on a chromosome

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4
Q

___ is referred to as PGD, 46, XY

___ is referred to as PGD, 46, XX

A

Swyer syndrome

XX gonadal dysgenesis

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5
Q

___ are aggregates of supporting cells (hormone secreting cells)

A

Primary sex cords

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6
Q

In the male, this duct plays the most important role in the development of genital ducts

A

Mesonephric ducts

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7
Q

In the females, this duct plays the most important role in the development of genital ducts

A

Paramesonephric ducts

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8
Q

Fetal sex is encoded on the ___

A

sex-determining region of the y-chromsome (SRY)

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9
Q

Synthesis of SRY protein triggers ___ development

A

Male

SRY protein is AKA testis-determining factor, TDF

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10
Q

No expression of SRY triggers ___ development

A

Female

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11
Q

The differentiation of bipotential gonads into testis requires ___

A

TDF (or SRY)

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12
Q

Sertoli cell differentiation requires ___

A

SOX9 (testes differentiation via steroidogenic factor 1 (SF1)

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13
Q

__ is required for proper sexual differentiation and chondrogenesis. A mutation in this results in a rare autosomal dominant congenital short limbed dwarfism characterized by congenital bowing of long bones associated with skeletal and extra skeletal features like hypoplastic lungs, malformations of C spine, heart and kidneys. Characteristic feature is male –> female sex reversal

A

Sox9

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14
Q

A mutation in SOX9 results in ___, a rare autosomal dominant congenital short limbed dwarfism characterized by congenital bowing of long bones associated with skeletal and extra skeletal features like hypoplastic lungs, malformations of C spine, heart and kidneys. Characteristic feature is male –> female sex reversal

A

Campomelic dysplasia

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15
Q

List the transcription factor/gene required for this conversion:

Differentiation of bipotential gonad into testis —> interstitial (leydig) cell differentiation

A

SOX9 (Testes differentiation via SF1)

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16
Q

Testosterone is converted to Dihydrotestosterone via __ enzyme and DHT influences differentiation of external genitalia and development of the prostate

A

5-alpha-reductase-2

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17
Q

Where is 5-alpha-reductase-2 made?

A

By part of the male repro tract (epididymis, seminal vesicle, prostate)

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18
Q

The paramesonephric ducts regress in the differentiation into male by ___

A

AMH or MIF

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19
Q

Under the influence of testosterone, the mesonephric ducts become ___

A

Ductus deferens and epididymis

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20
Q

Under the influence of DHT, the urogenital sinus closes and becomes the ___

A

Urethra and prostate

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21
Q

Under the influence of DHT, the genital tubercle becomes the ___

A

Penis

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22
Q

Under the influence of DHT, the labioscrotal swellings become the ___

A

Scrotum

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23
Q

In the development of the ovaries, primary (medullary) cords degenerate by the 10th week, cortical (secondary) cords develop and are invaded by __ cells

A

Primordial germ

24
Q

All oogonia are formed when?

A

Prenatally

25
Q

In the female, the ___ degenerate except for the epoophoron and the paroophoron found in the mesentery of the ovary

A

Mesonephric ducts

26
Q

Portions of the mesonephric duct in females may exist as __ duct

A

Gartner’s

27
Q

___ leads to upregulation of DAX1

A

WTN4

28
Q

___ is found on the X chromosome in both sexes and SRY expression represses expression of this

A

DAX1

29
Q

DAX1 duplicated in a male prevents testis formation, resulting in a ___

A

46 XY, female

30
Q

___ develop during 6th week as invaginations of epithelium lateral to the mesonephros and is inhibited in the male by AMH secreted by sertoli cells

A

Paramesonephric ducts (Mullerian)

31
Q

The paired portions of the paramesonephric ducts become the ___

A

Uterine tubes

32
Q

The ___ becomes the epithelium and glands of the uterus, epithelium of the upper 1/3 of the vagina, and the muscular wall of the vagina

A

Uterovaginal primordium

33
Q

The inferior portion of the vagina forms from the posterior wall of the __

A

Urogenital sinus (urinary bladder and urethra)

34
Q

Partial or total atresia of the distal portion of both ducts (female) can result in ___

A

Cervical or vaginal atresia

35
Q

46, XY can have persistence of paramesonephric ducts if the circulating levels of __ are low or there is an abnormal response to normal ___

A

AMH

AMH

36
Q

___ is the failure of the paramesonephric ducts to develop and results in missing uterine tubes, uterus, and variable malformations of the upper portion of the vagina

A

Mullerian (paramesonephric) agenesis

AKA MRKH or Mayer-Rokitansky-Kuster-Hauser syndrome

37
Q

Retrograde passage of blood into the uterine tubes can cause ___, which can lead to endometriosis and adhesion formation

A

Hematosalpinx

38
Q

In both sexes, a genital tubercle develops near the ___

A

Cloacal membrane

39
Q

The ___ divides the cloacal membrane into urogenital and anal membranes

A

Urorectal septum

40
Q

The ___ divides into the urogenital sinus and rectum

A

Cloaca

41
Q

Regarding the development of male external genitalia:

1) enlargement of the genital tubercle forms the ___
2) Urethral folds –> urethral groove, then fuse to form ___
3) Labioscrotal swellings become the __

A

1) phallus
2) penile urethra
3) scrotum

42
Q

Regarding female development:

1) Genital tubercle elongates and bends inferiorly to become the __
2) urethral folds become the ___; labioscrotal swellings become the ___
3) urethra and vagina open into the ___

A

1) clitoris
2) labia minora; labia majora
3) vestibule

43
Q

__ influence the development of both the internal (paramesonephric) female duct system as well as the external genitalia

A

Estrogens

44
Q

___ is known as undescended testes

A

Cryptorchidism

45
Q

__ is incomplete fusion of the urethral folds. The urethra opens onto the ventral aspect of the penis and can result from inadequate androgen production or inadequate receptor sites for DHT

A

Hypospadias

46
Q

List the 4 types of hypospadias

A

1-glandular
2-penile
3-penoscrotal
4-perineal

Slide 52 for image

47
Q

__ is when the urethral meatus opens on the dorsum of the penis and often occurs with bladder exstrophy

A

Epispadias

48
Q

___ is 47, XXY. Characterized by small testes, low levels of testosterone, poorly developed secondary sexual characteristics and gynecomastia, and elongated limbs.

A

Klinefelter Syndrome–> sex chromosome DSD

Risk for osteoporosis, 20x increased risk for breast cancer

Treat with testosterone replacement therapy

49
Q

___ is 45, X or 45, X/XX + 8 other variants. It is characterized by short stature, no adolescent growth spurt, broad chest, webbed neck, congenital heart disease, ovary development is abortive, and secondary sex characteristics do not develop

A

Turner’s syndrome–> sex chromosome DSD

Treat with GH and estrogen replacement therapy

50
Q

___ is characterized by the external genitalia of 1 sex accompanying the gonads of the other sex. It can be caused by abnormal levels of sex hormones or abnormalities in the receptors for these hormones

A

Pseudointersexuality or 46 XX DSD or 46 XY DSD

Old term=pseudohermaphroditism

51
Q

In 46 XX DSD, prenatal exposure to androgens after the 12th fetal week leads only to ___, while exposure at progressively earlier stages of differentiation leads to retention of the ___

A

Clitoral hypertrophy

urogenital sinus and labioscrotal fusion

52
Q

___ is AKA Female Intersex and females with severe forms of adrenal hyperplasia have ambiguous genitalia at birth due to excess adrenal androgen production in utero.

A

Classic Virilizing Adrenal Hyperplasia (46,XX,DSD)

53
Q

In female development, increased exposure to androgens may result in ___

A

Clitoral hypertrophy and/or labioscrotal fusion

54
Q

___ is an X-linked disorder in which receptors remain unresponsive to androgens. Despite normal levels of testosterone, the male fetus fails to masculinize and the external genitalia are feminine and internally, these individuals possess non-functioning undescended testes

A

Androgen Insensitivity Syndrome (AIS)-complete 46, XY, DSD

At puberty, secondary female sex characteristics may appear due to estradiol from testosterone aromatization

55
Q

___ is an autosomal recessive condition resulting in the inability to convert testosterone to the more physiologically active DHT. Genetic males with this are born with ambiguous genitalia (underdevelopment of penis and scrotum or pseudovaginal perineoscrotal hypospadias)

A

5-alpha-reductase deficiency

Derivatives of mesonephric duct are normal

Often misdiagnosed as AIS

56
Q

___ is very rare and characterized by having both ovarian and testicular tissue or ovotestes. The causes are poorly understood, there is ambiguous external genitalia, and traditionally most are raised as female

A

True intersex or ovotesticular DSD

57
Q

WHen is the genotype of the embryo established?

A

At fertilization

Reproductive And Development (16 decks)

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