177 endo genetics Flashcards Preview

Endocrine - DVR > 177 endo genetics > Flashcards

Flashcards in 177 endo genetics Deck (13):
1

what is the age difference in the presentation of monogenic vs polygenic disease?

monogeneic - early
polygenic - adult

2

klinefelter syndrome

47XXY

long arms/legs

gynecomastia

small testes --> low T; infertilie; osteoporosis (T--> estrogen in bones for protection)

increased LH/FSH (hypergonadatroph hypogonadism) - primary hypogonadism

impaired glucose tolerance

3

normal testes size in adults

18-25 mL

4

Turner Syndrome

45XO

web neck

primary amenorrhea

steak gonads --> infertile + low E --> high LH/FSH

aortic coarctation and bicuspid aortic valve--> aortic stenosis

lymphedema of feet/hands

5

MEN 1

parathryoid adenoma (~ 25 years, younger, x4)
pituitary adenoma
pancreases tumor

AD with 2nd hit concept

Menin gene on 11q13 --> tumor supressor

6

MEN 2

AD - GOF tyrosine kinase RET

MEN 2A - extracellular
MEN 2B - intracellular
high genotype-pheotype relationship

7

hereitary pheochromocytoma

good example of locus heterogenity

MEN 2
VHL
NF1
SDH --> pheo + paraganglioma

should offer pheo patients genetic testing

8

CAH

inborn error of steroid synthesis

AR - heterozygotes may have mild phenotype

increases ACTH because cortisol low

9

androgen resistance

5a reductase converts to DHT

mutation androgen receptor on X chromosome

46XY but phenotype female --> amenorrhea

abdominal testes

10

Reifenstein syndrome

genetic male
partial androgen resistance

11

DM

monogenic (AD - maturity onsent diabetes of the young - MODY) and DM 2 (multifactorial)

12

locus heterogenecity

different genes cause the same phenotype

congenital hypothroidism is a good example

13

allelic heterogeneity

one gene can cause many different phenotypes

different mutations in same gene