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GYN > Embryology and CAH > Flashcards

Embryology and CAH Flashcards

1
Q

Origin of congenital sinus

A

Endodermal

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2
Q

Parts of urogenital system that are endodermal in origin are

A

Lower 1/3rd of Vagina and Vaginal epithelium

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3
Q

Intermediate mesoderm gives rise to

A

Genital ridge and ducts.

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4
Q

Genital ridge derivatives are

A

Gonads and Renal system.

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5
Q

Gonads develop at

A

5 wks

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6
Q

Sex of baby is decided by

A

SRY region or Testis determining factor.

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7
Q

SRY gene present means

A

Male

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8
Q

Medulla of gonads gives rise to

A

Testis

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9
Q

Cortex of gonads gives rise to

A

Ovary

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10
Q

Testis @ which week

A

7th week

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11
Q

Ovary @ which week

A

8th week

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12
Q

Genes associated with testis

A

SOX - 9

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13
Q

Genes associated with Ovary

A

RSPO - 4 and WnT - 4

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14
Q

1st feature to distinguish between Testis and ovary

A

Formation of testicular cords

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15
Q

Testis and ovary are indistinguishable till

A

10-11 wks

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16
Q

Blood - Testis barrier is formed by

A

Sertoli cells

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17
Q

For complete formation of ovaries _____ is required

A

Two X chromosome.

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18
Q

Turner’s syndrome

A

45XO - Gonads are ovary- No Y chromosome.

Streak ovaries - Coz of only one X chromosome.

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19
Q

Mesonephric Duct

A

Wolffian

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20
Q

Paramesonephric Duct

A

Mullerian

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21
Q

Ducts appear by

A

6 weeks

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22
Q

____ ducts disappear in Females

A

Wolffian

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23
Q

_____ ducts disappear in Males

A

Mullerian

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24
Q

Mullerian and wolffian ducts disappear by

A

9 weeks.

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25
Q

Sertoli cells secrete ____ at 7 th week.

A

Anti mullerian factor or Testis inhibiting Hormone.

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26
Q

Remnant of Mullerian duct in males.

A

Prostatic Utricle

Appendix of testis - Hydatid of Morgagni.

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27
Q

Leydig cells secrete _______

A

Testosterone.

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28
Q

Testosterone production begins @ ___

A

8 th week

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29
Q

Testosterone production is maximum @_____

A

15 weeks

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30
Q

_____ promotes wolffian duct production in males

A

Testosterone produced by leydig cells

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31
Q

Male internal genital organs formed from Wolffian ducts are

A

S - Seminal vesicle
E - Ejaculatory ducts
E - Epididymis
D - vas Deferens

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32
Q

_____ helps in formation of Male external genital organs from Lateral mesoderm

A

Testosterone from Leydig cells.

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33
Q

Appendix of testis

A

Remnant of mullerian duct

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34
Q

Appendix of Epididymis

A

From Wolffian duct or mesonephric duct

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35
Q

Efferent ductules of testis is derived from

A

Mesonephros.

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36
Q

Remnants of Pronephros

A

Kubelt tubercle or hydatid of morgagni

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37
Q

Remnant of caudal end Mesonephros

A

Paranephros

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38
Q

Remnant of Cranial end of Mesonephros

A

Epo-Nephros

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39
Q

Remnant of Mullerian duct in Females

A

Gartner’s duct.

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40
Q

After mesonephric duct gives rise to Ureteric bud it is called as

A

wolffian duct

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41
Q

Hydatid of morgagni in males

A

Remnant of Mullerian duct

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42
Q

Hydatid of Morgagni in females

A

Remnant of Pronephros or Kubelt tubercle

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43
Q

Anti mullerian Hormone deficiency

A

AMH is produced only in males to suppress MD
So in its absence - MD does not regress
MD form Female internal genital organs - FT, Uterus, Cervix and upper 2/3rd of vagina.
Wolffian duct - grows male internal and external genital organs .
Leads to Uterus herniation syndrome or Persistent Mullerian duct syndrome.

44
Q

Persistent mullerian duct syndrome caused by

A

Deficiency of Anti mullerian hormone leading to non regression on Mullerian duct in male.

45
Q

Not a cause of Ambiguous genitalia in males

A

AMH deficiency or persistent mullerian duct syndrome

46
Q

Uterine herniation syndrome

A 
Less space coz of both Male and Female internal genital organs being present.
Cryptorchidism.
Vas Deferens obstruction.
Infertility 
Herniation of uterus .
47
Q

Developments of ducts in females.

A

Since gonads are ovaries - no sertoli or leydig cells.
Since no Sertoli cells - no AMH or TIF so MD develops female Internal genital organs.
Since no leydig cells - no Testosterone - so Wolffian ducts regress and no Male Internal and external genitalia.

48
Q

Remnants of Wolffian ducts in Females

A

Pronephros - Kubelt tubercle or hydatid of morgagni
Mesonephros - Cranial - Eponephros
Caudal - Paranephros.
Mesonephric duct - Gartner’s duct.

49
Q

Lower 1/3 rd of vagina is derived from

A

Genital sinus / Sino-vaginal bulb

50
Q

Sinovaginal bulb gives rise to

A

Lower 1/3rd of vagina

51
Q

Vaginal epithelium is derived from

A

Endoderm - Genital sinus

52
Q

Development of external genitalia

A

They develop from lateral plate mesoderm - Dorsal somatic part.
Depends on Testosterone levels.
If present - Male ext genitalia.
If absent - Female ext genitalia.

53
Q

Genital tubercle

A

Penis / Clitoris

54
Q

Genital Fold

A

Penile urethra / Labia minora

55
Q

Genital Swelling

A

Scrotum / Labia majora

56
Q

Sex of baby can be determined via USG by

A

14 weeks

57
Q

Homologous organs

A

Same embryological origin

58
Q

Homologous organ of Prostate

A

Skene or paraurethral glands

59
Q

Homologous organ of Cowper or bulbourethral glands

A

Bartholin gland

60
Q

Homologous organ of littre gland

A

Glands in labia majora and minora.

61
Q

MCC of Ambiguous genitalia in male

A

Androgen Insensitivity syndrome or testicular feminizing syndrome

62
Q

MCC of Ambiguous genitalia in females

A

CAH

63
Q

MC structures affected in Ambiguous genitalia

A

Clitoromegaly.
Fusion of Labioscrotal folds.
Phallus (Penile Urethra)

64
Q

True Hermaphroditism.

A

Both testis and ovary are present.

46XX is the most common stereotype.

65
Q

Pseudohermaphroditism

A

Gonads of one sex and external genitalia of other.

66
Q

Male Pseudohermaphroditism

A

Gonads - Testes - External genitalia of female

MCC- Androgen insensitivity syndrome

67
Q

Female Pseudohermaphroditism

A

Gonads- Ovary - External genitalia - Male

MCC- CAH

68
Q

DHEA - Steroid pathway

A

Pregnenolone to 17 hydroxypregnenolone to DHEA

Enzymes- 17 hydroxylase and 17,20 lyase

69
Q

Pregnenolone to 17 hydroxypregnenolone.

Enzyme .?

A

17 hydroxylase.

70
Q

Pregnenolone to aldosterone pathway

A

Pregnenolone to progesterone to deoxycortisone to cortisone to Aldosterone
Enzymes -3 beta HSD, 21 hydroxylase, 11 beta hydroxylase, 18 hydroxylase.

71
Q

Pregnenolone to Progesterone. Enzyme

A

3 beta HSD

72
Q

Progesterone to Deoxycortisone. Enzyme.

A

21 hydroxylase.

73
Q

Deoxycortisone to Cortisone.

Enzyme

A

11 beta Hydroxylase.

74
Q

Cortisone to Aldosterone. Enzyme.

A

18 Hydroxylase.

75
Q

17- Hydroxypregnenolone to Cortisol pathway.

A

17- Hydroxypregnenolone to 17 OH Progesterone to Deoxycortisol to cortisol.
Enzymes- 3 beta HSD, 21 hydroxylase, 11 Beta Hydroxylase, 18 hydroxylase.

76
Q

enzyme 3 beta HSD. which reaction’s.?

A

Pregnenolone to progesterone and 17 hydroxypregnenolone to 17 OH Progesterone.

77
Q

21 Hydroxylase Enzyme. Which reaction’s.?

A

Progesterone to Deoxycortisone.

17 OH Progesterone to Deoxycortisol.

78
Q

11 Beta Hydroxylase Enzyme. Which reaction.?

A

Deoxycortisone to Cortisone.

Deoxycortisol to Cortisol.

79
Q

18 Hydroxylase Enzyme. Which reaction.?

A

Cortisone to Aldosterone.

80
Q

Progesterone to Testosterone Pathway.

A

Progesterone to 17- OH Progesterone to Androsterone to Testosterone.
Enzymes- 17 hydroxylase and 17,20 lyase.

81
Q

MC enzyme deficiency in CAH

A

21 hydroxylase

Progesterone to dexycortisone.

82
Q

2nd MC Enzyme deficiency in CAH

A

11 Beta Hydroxylase.

Deoxycortisone to Cortisone.

83
Q

Least common Enzyme deficiency in CAH

A

3 beta HSD- Hydroxysteroid dehydrogenase.

84
Q

21 Hydroxylase is needed for production of ___ by Adrenals.

A

Cortico and mineralosteroids.

85
Q

21 Hydroxylase is not needed for production of ____ by Adrenals

A

Progesterone and Androgens.

86
Q

Pathogenesis of CAH - 21 hydroxylase.

A

21 hydroxylase is needed for production of Corticosteroids and mineralocorticoids by Adrenals.
Which provide negative feedback on ACTH.
Since no Cortico and mineralocorticoids - no negative feedback - inc ACTH - inc Progesterone and androgens.

87
Q

Inc androgens causes _____ in CAH in females.

A

Ambiguous genitalia - Clitoromegaly, Labioscrotal fusion and phallus formation.
Precocious puberty - heterosexual.
Virilisation.
Short stature due to early epiphyseal fusion.

88
Q

CAH in Males.

A

no ambiguous genitalia but other characteristics are present which are just normal male characteristics.

89
Q

Heterosexual Precocious puberty in female causes

A

Virilisation, Hirsutism, Inc muscle mass, Deepening of voice and clitoromegaly.

90
Q

Increased androgens effect + salt water wasting + Hyponatremia and hypokalemia + Hypotension=

A

CAH due to 21 hydroxylase deficiency

91
Q

Increased Androgen effects + hypertension =

A

CAH due to 11 beta hydroxylase deficiency.

92
Q

CAH with Hypertension.

A

11 beta Hydroxylase deficiency.
inc androgens- Ambiguous genitalia
inc deoxycortisone - hypertension.

93
Q

Screening test for CAH

A

17 OH Progesterone.
if < 300 = not CAH
300 - 800 = do diagnostic test
> 800 = CAH

94
Q

Diagnostic test for CAH

A

ACTH stimulation test.
Stimulate ACTH and check 17 OH Progesterone levels after 1/2 hr
if >1500 ng/dl = CAH

95
Q

Mx of CAH

A

For Salt water wasting - Steroid of choice = Fludrocortisone.
Surgical removal of Phallus @ 4-5 yrs of age
For Corticosteroid deficiency = steroid of choice is age dependant
in Childhood - hydrocortisone - to prevent epiphyseal closure
@ puberty - Dexamethasone or prednisone
In pregnancy - Hydrocortisone - can not cross placental barrier.

96
Q

Steroid of choice in CAH in childhood

A

Hydrocortisone - to prevent early epiphyseal closure

97
Q

Steroid of choice @ puberty in CAH

A

Dexamethasone or Prednisone

98
Q

Pregnancy in CAH females how to Mx.?

A

Steroid of choice is Hydrocortisone - does not cross placental barrier
@ 10 weeks - FISH - fluorescence In-Situ Hybridisation - If male or unaffected female - continue Hydrocortisone.
If affected female fetus - Give Dexamethasone to cross placenta.

99
Q

Late onset CAH

A

@ puberty - inc androgens and progesterone.
normal genitalia but hirsutism, virilisation are present.
Dx is same as normal CAH

100
Q

Pubertal woman with hirsutism - DDx

A

PCOS or late onset CAH

101
Q

Virilisation Characteristics.

A 
Female with secondary sexual characters resembling male.
Hirsutism,
inc muscle mass,
Deep voice,
Breast atrophy.
102
Q

Gartner’s cyst

A 
Tender, shiny 
No rugosities,
not reducible,
cough impulse is absent 
Well defined margins
103
Q

Cystocele

A 
Not shiny and tender 
Rugosities are present 
Reducible
No clear margins 
Cough impulse is absent
104
Q

MC cyst in vagina

A

inclusion cyst

105
Q

MC cyst in Ovary

A

Follicular cyst

GYN (19 decks)

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