teratology(dr.sur) 808 kedua

7/25/2019 Teratology(Dr.sur) 808 Kedua

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Basic Medical Education Programme

School of MedicineGadjah Mada University

CONGENITAL MALFORMATIONS,

TERATOLOGY,HERMAPHRODITISM

dr. E. Suryadi, SUSCHOOL OF MEDICINE GMU


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CONGENITAL MALFORMATION (CM) :

Are anatomical abnormalitie!reent at birt"

Ma# be macroco!ic or microco!ic

On $r%ace or &it"in t"e bo'#

INTR!U"TIN


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TERATOLOG I t"e branc" o% embr#olo# &"ic"

'eal &it" abnormal 'e*elo!ment an'

Conenital Mal%ormation

HERMA+HRODITISM

Error in e, 'e*elo!ment ma# re$lt in

*ario$ 'eree o% interme'iate e,


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E+IDEMIOLOG AND CAUSES OF CM Abo$t -./ o% 'eat" in neonatal !erio' are

attrib$te' to CM

Abo$t 0/ o% one #ear ol' in%ant "a*e CM

1 CAUSES

-2 Genetic %actor : c"romoomal abnormalitie an'

m$tant ene

32 En*ironmental %actor

12 Combination or interaction t"e enetic %actor an'en*ironmental %actor (m$lti%actor)


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Abo$t one o% 344 ne& born in%ant

T&o 5in' o% c"ane : n$merical an'

tr$ct$ral

C"ane in c"romoome n$mber re!reent

eit"er ane$!loi'# or !ol#!loi'#

Ane$!loi'#6 an# 'e*iation %rom t"e 'i!loi'6

ma# be "#!o'i!loi' or "#!er'i!loi'

"#RMSM$%

$BNRM$%ITIES


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-2 MONOSOM

Embr#o miin a c"romoome $$all#

'ie

Abo$t 78 / at Embr#o lac5in a e,

c"romoome alo 'ie an' 1/ (abo$t 1 in

-42444 ne& born %emale) "a*ec"aracteritic o% T$rner9 #n'rome or

o*arian '#enei

NUMERI"$%"#RMSM$%

$BNRM$%ITIES


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32 TRISOM I% t"ree c"romoome are !reent intea' o% t"e

$$al !air

Ca$e o% triom# i non 'i$nction '$rinmeioi

A$toomal triom#

3- triom# (Do&n9 #n'rome) - : 044

-; triom# (E'&ar'9 #n'rome) - : 1144

-1 < -. triom# (+ata$9 #n'rome) - : ..44

Se, c"romoomal triom#

=86 >>> %emale - : -444 mentall# retar'e'

=86 >> Male - : .44 5line%elter #n'rome

=86 > Male - : -444 !eronalit# 'ior'er


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12 TETRASOM AND +ENTASOM Ha*e %o$r or %i*e e, c"romoome < mental

retar'ation an' !"#ical im!airment

=2 MOSAICISM +eron &it" t"i con'ition "a*e t&o or more cell

line &it" 'i%%erent 5ar#ot#!e (=0 >> ? =. , 4 ? =8>>>)

T"e a$toome an' t"e e, c"romoome ma# bein*ol*e'

U$all# t"e mal%ormation are le erio$

U$all# arie b# non 'i$nction '$rin earl#

clea*ae 'i*iion


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.2 +OL+LOID

+ol#!loi' cell contain m$lti!le o%

t"e "a!loi' n$mber o% c"romoome

(I2e : 076 73)

A ini%icant ca$e o% !ontaneo$

abortion


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Re$lt %rom c"romoome brea5

In'$ce b# *ario$ en*ironmental %actor

T"e t#!e o% abnormalit# &"ic" re$lt 'e!en'

$!on &"at "a!!en to t"e bro5en !iece

@in' o% tr$ct$ral abnormalitie

Tranlocation '$!lication

'eletion ioc"romoome

a rin c"romoome

"#RMSM$%STRU"TUR$%

$BNRM$%ITIES


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Rarer t"an n$merical an' tr$ct$ral

c"romoomal abnormalitie

Mot m$tant ene 'o not ca$e CM to

e,!re 'e!en' on 'ominant or recei*e

ene

E,am!le6 'ominant: ac"on'ro!laia an'!ol'act#l#B recei*e: conenital a'renal

"#!er!laia6 microce!"al#6 an'

'entinoenei im!er%ecta

M$%&RM$TIN "$USE! B'MUT$NT GENES


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Teratoen i aent ma# in'$ce CM &"entr$ct$re are 'e*elo!in

@in' o% teratoen

-2 ariet# o% c"emical : !oion6 'r$6in'$trial '#e

32 In%ectio$ aent : r$bella6 to,o!lamoi6ric5ettia

12 +"#ical %actor : li5e >ra# an' ano,ia

=2 Mec"anical %actor : t"e amnionic %l$i'aborb mec"anical !re$re

M$%&RM$TIN "$USE! B'EN(IRNMENT$% &$"TRS


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D$rin t"e oranoenei !erio' (%rom 'a#

-. to 'a# 04)

T"i !erio' teratoenic aent ma# be let"al

or to !ro'$ce maor mor!"oloical

abnormalitie

SENSITI(E R "RITI"$%

PERI!S


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The teratogenic effect of medications variestemporally. That is the fet!s" s!scepti#ility

varies depending on the fet!s" appositecritical periods of development. $ifferent organs have different critical

periods altho!gh the interim from gestation

day 15 to day 60 is critical for many organs. The heart is most sensitive d!ring the third

and fo!rth %ee&s of gestation %hile thee'ternal genitalia are most sensitive d!ring

the eighth and ninth %ee&s. The #rain and s&eleton are al%ays sensitive

from the #eginning of the third %ee& to theend of pregnancy and the neonatal period.

TERATOGEN MALFORMATIONS


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TERATOGEN MALFORMATIONS

An'roenic Aent Et"iterone Nonet"iterone

ar#in 'eree o% mac$liniation o%

%emale %et$ B mot "a*e labial %$ionan' clitoral "#!ertro!"#

Antit$mor Aent Amino!terin

$ol%an(M#leran) G

teratology(dr.sur) 808 kedua

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