ANDROGEN INSENSITIVITY SYNDROME (FEMINISASI TESTIKULAR)

AMRI PRAIDHI 1102005017 PEMBIMBING: dr. Hushat Pritalianto, !"G

DEFINISI
# Andro$%n Ins%nsiti&it' 'ndro(% )AI * + sindro(a Ins%nsiti,itas Andro$%n + sindro( ,%(inisasi t%sti-ular : s%-u(!ulan $an$$uan !%r-%(.an$an s%-sual a-i.at (utasi $%n !%n'andi r%s%!tor andro$%n

# /0linked r%s%si, -%$a$alan dala( (as-ulinisasi nor(al or$an $%nitalia %-st%rna !ada indi&idu d%n$an -ro(oso( la-i0la-i. # P%n'%.a. t%rs%rin$ -%ti$a a(%nor% !ri(%r s%t%lah $onadal dis$%n%sis 1 (ull%rian a$%n%sis # G%noti!% 23 /4, ,%noti!% !%r%(!uan # Andro$%n nor(al, na(un ,un$si r%s%!tor andro$%n (%n$ala(i $an$$uan

# Di.a$i (%n5adi: 6 Complete androgen insensitivity syndrome )7AI * : # !%r-%(.an$an !%nis dan .a$ian tu.uh !ria lainn'a t%r$an$$u # ana- lahir s%.a$ai !%r%(!uan # saat !u.%rtas, tanda0tanda s%-s s%-und%r )s%!%rti !a'udara* .%r-%(.an$, t%ta!i (%nstruasi tida- t%r5adi dan in,%rtil. # .%r!%na(!ilan 8anita, t%ta!i tida- (%(ili-i ut%rus, (%(!un'ai s%di-it .ulu -%tia- dan ra(.ut !u.is

6 Partial androgen insensitivity syndrome )PAI *: # da!at .%r!%na(!ilan s%.a$ai la-i0la-i atau !%r%(!uan # Ban'a- t%r5adi !%nutu!an s%.a$ian .i.ir &a$ina luar, !%(.%saran -litoris, dan &a$ina dan$-al # da!at .%ru!a sindro( t%r5adin'a !%r-%(.an$an !a'udara !ada !ria, -%$a$alan turunn'a t%stis -% dala( s-rotu( s%t%lah -%lahiran

PATOFISIOLOGI
# Etiolo$i dasar AI hilan$n'a ,un$si (utasi !ada $%n r%s%!tor andro$%n !ada l%n$an !an5an$ -ro(oso( / # 2 ti!% (utasi r%s%!tor andro$%n :
6 (utasi !ada satu t%(!at su.stitusi asa( a(ino 9 premature stop codons 6 Ins%rsi atau d%l%si nu-l%otid 6 D%l%si $%n 'an$ -o(!lit atau !arsial 6 Mutasi intron

# Pada ,%tus nor(al -arioti!% 23/4 $%n R4 (%ran$san$ t%stis untu- (%(.%ntu- genital ridges pada a.do(%n ,%tus (in$$u 3, anato(i ,%tus /4 atau // tida- da!at di.%da-an # Pada -%ha(ilan 7 (in$$u t%stis (ulai (%(!rodu-si t%stost%ron Dihidrot%stost%ron )DH:* dan t%stost%ron .%ra-si !ada -ulit dan 5arin$an ar%a $%nital. # ;%ha(ilan 12 (in$$u t%r.%ntu-lah !%nis d%n$an lu.an$ ur%tra di u5un$n'a, s%dan$-an !%rin%u( (%n'atu dan (%ni!is (%(.%ntu- s-rotu( 'an$ sia! untu- (%n%ri(a t%stis.

P%ru.ahan $%nitalia 'an$ dis%.a.-an andro$%n !ada ,%tus d%n$an -arioti! 23/4

Mutasi AI 'an$ (%(!%n$aruhi si,at nor(al r%s%!tor andro$%n

Androgen Receptor

Xq 11-12 Area XY Person X Chromosome

Gene Encoding Androgen Receptor Androgen Receptor

Androgen Insensitive to Androgen

Normal Androgen Receptor ehavior

P%ru.ahan $%nitalia !ada !asi%n d%n$an AI

GAMBARAN KLINIS
# :%(uan -linis 'an$ (%ndu-un$ dia$nosis AI :
6 $%nitalia %-st%rna a.nor(al atau tida- ada 6 dua t%stis 'an$ nondis!lasti6 tida- adan'a stru-tur (ull%rian atau rudi(%nt%r dan dida!ati &a$ina 'an$ !%nd%6 saat lahir $%nitalia %-st%rna -uran$ (as-ulinisasi 6 $an$$uan s!%r(ato$%n%sis dan atau &irilisasi so(ati- saat !u.%rtas

PENEGAKAN DIAGNOSIS
# P%(%ri-saan -arioti!% (%(.%da-an la-i0la-i d$n $an$$uan (as-ulinisasi 1 !%r%(!uan '$ (%n$ala(i (as-ulinisasi # Analisis (utasi r%s%!tor andro$%n (a(!u (%nd%t%-si sa(!ai <5= (utasi 'an$ t%r5adi !ada 7AI dan PAI # P%(%ri-saan ultrasono$ra,i .%r$una untu(%n$id%nti,i-asi stu-tur (ull%rian

PENEGAKAN DIAGNOSIS
# :%(uan la.oratoriu( :
6 6 6 6 6 -arioti!% 23, /4 sint%sis t%stost%ron nor(al9(%nin$-at -on&%rsi nor(al t%stost%ron dihidrot%stost%ron !rodu-si >H ol%h hi!o,is% nor(al9(%nin$-at d%,isi%nsi atau d%,%-ti, -%(a(!uan !%n$i-atan andro$%n ol%h ,i.ro.last -ulit $%nital

# Dia$nosis PAI !%rlu didu-un$ d%n$an ri8a'at -%luar$a

PENATALAKSANAAN
! "erapi edah - #rchidectom$ - Re%onstr&%si 'agina ! "erapi (&)stit&si *ormonal
+ "erapi s&)stit&si estrogen pasien post orchidectomy + PAI( dgn identitas la%i-la%i testosteron , -*"

! "erapi Psi%ologis

PROGNOSIS
# ?ntu- 7AI , !%n$an$-atan 5arin$an t%stis s%.ai-n'a dila-u-an. # Pro$nosis untu- PAI t%r$antun$ dari -%adaan dan .%rat tida-n'a a(.i$uitas $%nitalia

KOMPLIKASI
# ;o(!li-asi 'an$ da!at t%r5adi adalah -an-%r t%stis, in,%rtilitas, dan $an$$uan !si-olo$is