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Life Cycle > LC Exam 1 Week 1 > Flashcards

LC Exam 1 Week 1 Flashcards

1
Q

SRY gene location, function, and action

A

Short arm on Y chromosome
Sex determining region
Differentiation into testes at 7 wks

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2
Q

Important ovarian differentiation genes

A

RSPO1 and WNT4 lead to ß-catenin (inhibit testes promote ovary)
FOXL2
DAXI

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3
Q

Important genes for genital ridge formation

A

WT-1 (Wilms tumor)
WT-1 deletions lead to dysgenesis and Wilms tumor
NR5A1 aka SF-1
SF-1 deletions lead to gonad dysgenesis, adrenal failure, and persistent mullerian structures

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4
Q

Important testicular differentiation genes

A

SRY

SOX-9 (target of SRY)

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5
Q

Mesonephric and paramesonephric counterparts

A 
Meso = Wolffian ducts (Epi, VD, SV)
Para = Mullerian ducts (FT, uterus, upper vagina)
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6
Q

Male testicular sections in early development and cell that produces

A 
Testosterone (Leydig)
Antimullerian hormone (Sertoli)
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7
Q

External structure embryology male and female:
Genital tubercle
Urethreal folds
Labial/scrotal folds

A

GT: glands penis, clitoris
UF: penile urethra, labia minora
L/SF: scrotum, labia majora

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8
Q

Hymen

A

connection between genitourinary and Mullerian/vagina

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9
Q

Male development with testosterone

A

1st trimester: HCG stimulates Leydig cells
After: HPG axis required (hormone production starts around 10 wks)
External completed by 13 wks

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10
Q

4 steps in mullerian development

A
  1. Elongation
  2. Fusion
  3. Canalization
  4. Septal reabsorption
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11
Q

3 vaginal obstructions

A
  1. imperforate hymen (caudal end of sinovaginal bulb)
  2. transverse vaginal sinus (failed at vaginal plate)
  3. vaginal atresia (failed at UG sinus, below vaginal plate)
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12
Q

Class I mullerian defects: agenesis
4 types
Failure

A

Mullerian agenesis or hypoplasia
Vaginal, fundal, cervical, or tubal
Failed elongation

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13
Q

Class II mullerian defects: unicornuate
4 types
Failure

A

Unicornuate
Failure of one duct to reach UG sinus with contralateral duct
Communicating, non-communicating, no cavity, no horn
Failed elongation

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14
Q

Class III mullerian defects: didelphys
Pathophys
Failure

A

Uterine didelphys
Failure to fuse in the midline (failed fusion)
2 distinct cavities with longitudinal septum and two endometrial cavities and cervices
Longitudinal septum in vagina also common

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15
Q

Consequence of class III defect: didelphys

A

Obstructed hemivagina
Ipislateral renal anomaly
Progressive pain due to enlarging endo

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16
Q

Class IV mullerian defect: bicornate
2 types
Timing
Failure

A

Bicornate
Complete (extends to os) or partial (confined to fundus)
Occurs at 9th week gestation
Failure of fusion

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17
Q

Class V mullerian defect: septate
2 types
Failure

A

Septate
Complete (extends to os) or partial (confined to fundus)
Failed septal reabsorption
Most common abnormality, may be Asx.

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18
Q

Class VI and VII mullerian defects

A

VI: arcuate - no consequences
VII: DES exposure

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19
Q

Obstructive vs. non-obstructive congenital vaginal/uterine defects

A

Obstructive: cyclic pain

Non-obstructive: usually no pain

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20
Q

Treatment for failed vaginal canilization

A

DON’T ASPIRATE

Remove surgically

21
Q

Neo vaginal options

A
  1. Vaginal dilators

2. Surgical plasty

22
Q

Sertoli cell functions

A

Respond to FSH (GPCR)
Secrete AMH (degenerate mullerian)
Form blood sperm barrier
Secrete androgen binding protein (ABP): maintain high local T concentration for spermatogenesis
Convert androgen to estrogen via aromatase (also happens in adipose tissue)
Secrete inhibin (growth factor for Leydig, neg on FSH)

23
Q

Leydig cell functions

A 
Respond to LH (GPCR)
Secrete testosterone (responsible for Wolffian)
Secrete StAR and sterol carrier protein (steroidogenesis)
24
Q

Male HPG feedback

A 
Androgens: neg on GnRH and LH/FSH
Estrogens: neg on LH/FSH
Inhibin: neg on FSH
IGF-1: stimulates GnRH
T/E2: stimulate GH secretion
25
Q

Actions of androgens in males

A

Differentiation of internal and external genitals
Initiation and maintenance of spermatogenesis
Development of 2ndary sex characteristics
Anabolic

26
Q

Prepubertal vs. post pubertal FSH and LH levels in the male

A

Prepuberty: FSH>LH
Postpuberty: LH>FSH, due to preferential LH stimulation by GnRH and potentially inhibin release

27
Q

Estrogen effects on bone growth

A

Stimulates bone growth
Accelerates maturation
Epi closure (narrows growth window)

28
Q

Does Molly really smell like burritos?

A

Yes, but it’s kind of sexy

29
Q

Venous drainage

A

Left ovary/testis: left gonadal vein, left renal vein, IVC

Right ovary/testis: right gonadal vein, IVC

30
Q

Klinefelter syndrome: chr, pathophys, sx

A

47XXY
Dysgenesis of seminiferous tubules: low inhibin, high FSH
Abnormal Leydig: low T, high LH, high E2 conversion
Eunuchoid body, tall, gynecomastia, barr body, hypogonadism

31
Q

Turner syndrome: chr, pathophys, sx

A

45XO
Menopause before menarche
Decreased E2 leads to increased FSH/LH
1˚ amenorrhea, preductal coarctation, cystic hygroma

32
Q 
Testosterone/LH levels in (and ex of):
Defective androgen receptor
Testosterone-secreting tumor, exo steroids
1˚ hypogonadism
Hypogonadotropic hypogonadism
A
  1. AIS: increased T and LH
  2. Tumor/steroid: increased T and decreased LH
  3. Gonadal dysgenesis/failure: decreased T and increased LH
  4. Hypothalamus/pit dysfxn: decreased T and LH
33
Q

46XX DSD: characteristics, example, hormone levels

A

Ovaries present, extgen is virilized or ambiguous
CAH, SRY translocation, ovotesticular
Exo androgens during pregnancy

34
Q

46XY DSD: characteristics, example, hormone levels

A

Testes present, extgen is female/ambiguous
AIS (no sexual hair -vs mull agenesis-, increased T, E2, LH)
Androgen production problems:
5alpha reductase def
CAH/decreased sex hormones production: StAR or 17 anything

35
Q

CAH: common types

A
  1. 21-hydroxylase
  2. 11-ß hydroxylase
  3. StAR (chole filled adrenal glands)
  4. 3ß-hydroxysteroid DH
  5. 17alpha hydroxlyase or 17,20 lyase
36
Q

17 CAH and StAR with regards to DSD

Potassium status?

A

46XX DSD: Normal at birth, failure to develop 2ndary sex characteristic during puberty
46XY DSD: Undervirilized at birth
Hypokalemia in both

37
Q

One CAH that produces undervirilized in males and virilized in females

A

3ß-hydroxysteroid DH

High block

38
Q

Female puberty onset:
Breast tanner II
Menarche
Bone age

A

Breasts: 10.5 (earlier in Black/Hispanic)
Menarche: 12
Bone age: 10.5-11

39
Q 
Male puberty onset:
Testes
Pubic hair
Penile enlargement
Height velocity
Bone age
A 
Testes: 12 (9-14)
Hair: 12
Enlargement: 13
Height velocity: 14
Bone age: 11.5-12
40
Q

Congenital hypogonadatropic hypogonadism

A

Prader Willi
Kallman
Septo-optic-dysplasia
Idiopathic

41
Q

Acquired hypogonadatropic hypogonadism

A

Pituitary/hypothalmic tumor
Cranial irradiation
CNS infection
AI hypophysitis

42
Q

Hypergonadotropic hypogonadism

A

Primary ovarian and testicular failure
Klinefelters, Turners
Galactosemia
Cryptorchidism

43
Q

Central precocious puberty

A 
5% of girls = CNS abnormality
50% of boys = CNS abnormality
Mass effect tumor
Hydrocephalus
Trauma
Irradiation
44
Q

Peripherial precocious puberty in females

A 
Ovarian cyst
Granulosa cell tumor
Exogenous estrogens
Lavendar products
Severe primary hypothyroidism (TSH = FSH) - delayed bone growth
45
Q

Peripherial precocious puberty in males

A

Adrenal tumor
Leydig cell tumor
Testotoxicosis: LH receptor mutation/activation
hCG secreting tumor
McCune Albright Syndrome
Late onset CAH
Severe primary hypothyroidism (TSH = FSH) - delayed bone growth

46
Q

Evaluation of precocious puberty: LH and GnRH stim

A

Random LH: post-pubertal = central
Random LH: pre-pubertal = GnRH stim
Stim = pre-pubertal = peripheral
Stim = post-pubertal = central

47
Q

Treatment of:
Central precocious puberty
Peripheral: ovarian cyst, McCune-Albright, testotoxicosis, CAH

A 
Central: GnRH analogue
Ovarian cyst: watchful wait/fu
McCune: Aromatase inhibitor
Testotoxicosis: Aromatase inhibitor + androgen blocker OR ketoconazole
CAH: GC's
48
Q

Lymph drainage

A

ovaries/testes: para-aortic lymph nodes
vagina/vulva/scrotum/anus: superficial inguinal
prostate/cervix/proximal vagina: deep inguinal

Life Cycle (21 decks)

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