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Assignment:

KLINEFELTER SYNDROME

Submitted to:

Dr.Umar Rashid

Submitted by:

Muhammad Aaqib Raza

Ag No.

2014-ag-3185

F.Sc (!e"Ag!icu#tu!e$

%AF F&is#&b&d



'&t is K#ine)e#te! synd!ome*

Klineel!er s"ndr#me is a $hr#m#s#mal $#ndi!i#n !ha! a%e$!s male &h"si$al

and $#gni!i'e de'el#&men!. (!s signs and s"m&!#ms 'ar" am#ng a%e$!ed

indi'iduals.

A%e$!ed indi'iduals !"&i$all" ha'e small !es!es !ha! d# n#! &r#du$e as mu$h

!es!#s!er#ne as usual. )es!#s!er#ne is !he h#rm#ne !ha! dire$!s male se*ual

de'el#&men! be#re bir!h and during &uber!". A sh#r!age # !es!#s!er#ne $an

lead !# dela"ed #r in$#m&le!e &uber!"+ breas! enlargemen! ,g"ne$#mas!ia+

redu$ed a$ial and b#d" hair+ and an inabili!" !# ha'e bi#l#gi$al $hildren

,iner!ili!". #me a%e$!ed indi'iduals als# ha'e geni!al di%eren$es in$luding

undes$ended !es!es ,$r"&!#r$hidism+ !he #&ening # !he ure!hra #n !he

underside # !he &enis ,h"&#s&adias+ #r an unusuall" small &enis

,mi$r#&enis.

/lder $hildren and adul!s i!h Klineel!er s"ndr#me !end !# be !aller !han

!heir &eers. #m&ared i!h una%e$!ed men+ adul!s i!h Klineel!er s"ndr#me

ha'e an in$reased ris # de'el#&ing breas! $an$er and a $hr#ni$

inamma!#r" disease $alled s"s!emi$ lu&us er"!hema!#sus. )heir $han$e # de'el#&ing !hese dis#rders is similar !# !ha! # #men in !he general

&#&ula!i#n.

hildren i!h Klineel!er s"ndr#me ma" ha'e learning disabili!ies and

dela"ed s&ee$h and language de'el#&men!. )he" !end !# be quie!+ sensi!i'e+

and unasser!i'e+ bu! &ers#nali!" $hara$!eris!i$s 'ar" am#ng a%e$!ed

indi'iduals.

+o, common is K#ine)e#te! synd!ome*

Klineel!er s"ndr#me a%e$!s 1 in 500 !# 1+000 neb#rn males. M#s! 'arian!s

# Klineel!er s"ndr#me are mu$h rarer+ #$$urring in 1 in 50+000 #r eer

neb#rns.



Resear$hers sus&e$! !ha! Klineel!er s"ndr#me is underdiagn#sed be$ause

!he $#ndi!i#n ma" n#! be iden!ied in &e#&le i!h mild signs and s"m&!#ms.

Addi!i#nall"+ !he ea!ures # !he $#ndi!i#n 'ar" and #'erla& signi$an!l" i!h

!h#se # #!her $#ndi!i#ns.



'&t &!e te genetic c&nges !e#&ted to K#ine)e#te! synd!ome*

Klineel!er s"ndr#me is a $#ndi!i#n rela!ed !# !he and 6 $hr#m#s#mes ,!he

se* $hr#m#s#mes. 7e#&le !"&i$all" ha'e !# se* $hr#m#s#mes in ea$h $ell

emales ha'e !# $hr#m#s#mes ,49++ and males ha'e #ne and #ne 6

$hr#m#s#me ,49+6. M#s! #!en+ Klineel!er s"ndr#me resul!s r#m !he

&resen$e # #ne e*!ra $#&" # !he $hr#m#s#me in ea$h $ell ,4:+6. ;*!ra

$#&ies # genes #n !he $hr#m#s#me in!erere i!h male se*ual

de'el#&men!+ #!en &re'en!ing !he !es!es r#m un$!i#ning n#rmall" and

redu$ing !he le'els # !es!#s!er#ne. M#s! &e#&le i!h an e*!ra $hr#m#s#me

ha'e !he ea!ures des$ribed ab#'e+ al!h#ugh s#me ha'e e #r n#

ass#$ia!ed signs and s"m&!#ms.

#me &e#&le i!h ea!ures # Klineel!er s"ndr#me ha'e m#re !han #ne e*!ra

se* $hr#m#s#me in ea$h $ell ,#r e*am&le+ 48+6 #r 4<+6. )hese

$#ndi!i#ns+ hi$h are #!en $alled 'arian!s # Klineel!er s"ndr#me+ !end !#

$ause m#re se'ere signs and s"m&!#ms !han $lassi$ Klineel!er s"ndr#me. (n

addi!i#n !# a%e$!ing male se*ual de'el#&men!+ 'arian!s # Klineel!er

s"ndr#me are ass#$ia!ed i!h in!elle$!ual disabili!"+ dis!in$!i'e a$ial

ea!ures+ sele!al abn#rmali!ies+ &##r $##rdina!i#n+ and se'ere &r#blems i!hs&ee$h. As !he number # e*!ra se* $hr#m#s#mes in$reases+ s# d#es !he ris

# !hese heal!h &r#blems.

#me &e#&le i!h ea!ures # Klineel!er s"ndr#me ha'e !he e*!ra

$hr#m#s#me in #nl" s#me # !heir $ells= in !hese indi'iduals+ !he $#ndi!i#n is

des$ribed as m#sai$ Klineel!er s"ndr#me ,49+6>4:+6. (ndi'iduals i!h

m#sai$ Klineel!er s"ndr#me ma" ha'e milder signs and s"m&!#ms+

de&ending #n h# man" $ells ha'e an addi!i#nal $hr#m#s#me.

-&n K#ine)e#te! synd!ome be ine!ited*

Klineel!er s"ndr#me and i!s 'arian!s are n#! inheri!ed= !hese $hr#m#s#mal

$hanges usuall" #$$ur as rand#m e'en!s during !he #rma!i#n #



re&r#du$!i'e $ells ,eggs and s&erm in a &aren!. An err#r in $ell di'isi#n

$alled n#ndis?un$!i#n resul!s in a re&r#du$!i'e $ell i!h an abn#rmal number

# $hr#m#s#mes. @#r e*am&le+ an egg #r s&erm $ell ma" gain #ne #r m#re

e*!ra $#&ies # !he $hr#m#s#me as a resul! # n#ndis?un$!i#n. ( #ne #

!hese a!"&i$al re&r#du$!i'e $ells $#n!ribu!es !# !he gene!i$ maeu& # a

$hild+ !he $hild ill ha'e #ne #r m#re e*!ra $hr#m#s#mes in ea$h # !he

b#d"s $ells.

M#sai$ 49+6>4:+6 is als# n#! inheri!ed. (! #$$urs as a rand#m e'en! during

$ell di'isi#n earl" in e!al de'el#&men!. As a resul!+ s#me # !he b#d"s $ells

ha'e #ne $hr#m#s#me and #ne 6 $hr#m#s#me ,49+6+ and #!her $ells

ha'e an e*!ra $#&" # !he $hr#m#s#me ,4:+6.

Bhere $an ( nd in#rma!i#n ab#u! diagn#sis #r managemen! # Klineel!er

s"ndr#meC

)hese res#ur$es address !he diagn#sis #r managemen! # Klineel!er

s"ndr#me and ma" in$lude !rea!men! &r#'iders.

ene!i$ )es!ing Regis!r" Klineel!ers s"ndr#me+ 6)his lin leads !# a si!e

#u!side ene!i$s E#me Reeren$e.

Medline7lus ;n$"$l#&edia Klineel!er "ndr#me)his lin leads !# a si!e

#u!side ene!i$s E#me Reeren$e.

Medline7lus ;n$"$l#&edia )es!i$ular @ailure)his lin leads !# a si!e #u!side

ene!i$s E#me Reeren$e.

6#u migh! als# nd in#rma!i#n #n !he diagn#sis #r managemen! #

Klineel!er s"ndr#me in ;du$a!i#nal res#ur$es and 7a!ien! su&&#r!.

eneral in#rma!i#n ab#u! !he diagn#sis and managemen! # gene!i$

$#ndi!i#ns is a'ailable in !he Eandb##. Read m#re ab#u! gene!i$ !es!ing+

&ar!i$ularl" !he di%eren$e be!een $lini$al !es!s and resear$h !es!s.



)# l#$a!e a heal!h$are &r#'ider+ see E# $an ( nd a gene!i$s &r#essi#nal in

m" areaC in !he Eandb##.

Bhere $an ( nd addi!i#nal in#rma!i#n ab#u! Klineel!er s"ndr#meC

6#u ma" nd !he #ll#ing res#ur$es ab#u! Klineel!er s"ndr#me hel&ul.

)hese ma!erials are ri!!en #r !he general &ubli$.

Medline7lus - Eeal!h in#rma!i#n ,3 lins

ene!i$ and Rare Diseases (n#rma!i#n en!er - (n#rma!i#n ab#u! gene!i$

$#ndi!i#ns and rare diseases ,2 lins

Addi!i#nal F(E Res#ur$es - Fa!i#nal (ns!i!u!es # Eeal!h ,2 lins

;du$a!i#nal res#ur$es - (n#rma!i#n &ages ,8 lins

7a!ien! su&&#r! - @#r &a!ien!s and amilies ,3 lins

6#u ma" als# be in!eres!ed in !hese res#ur$es+ hi$h are designed #r

heal!h$are &r#essi#nals and resear$hers.

ene!i$ )es!ing Regis!r" - Re&#si!#r" # gene!i$ !es! in#rma!i#n ,1 lin

lini$al)rials.g#')his lin leads !# a si!e #u!side ene!i$s E#me Reeren$e. -

Gining &a!ien!s !# medi$al resear$h

7ubMed)his lin leads !# a si!e #u!side ene!i$s E#me Reeren$e. - Re$en!

li!era!ure

Bha! #!her names d# &e#&le use #r Klineel!er s"ndr#meC

Klineel!ers s"ndr#me

6 s"ndr#me

6 !ris#m"



@#r m#re in#rma!i#n ab#u! naming gene!i$ $#ndi!i#ns+ see !he ene!i$s

E#me Reeren$e #ndi!i#n Faming uidelines and E# are gene!i$

$#ndi!i#ns and genes namedC in !he Eandb##.

Bha! i ( s!ill ha'e s&e$i$ ques!i#ns ab#u! Klineel!er s"ndr#meC

As !he ene!i$ and Rare Diseases (n#rma!i#n en!er)his lin leads !# a si!e

#u!side ene!i$s E#me Reeren$e..

Bhere $an ( nd general in#rma!i#n ab#u! gene!i$ $#ndi!i#nsC

)he Eandb## &r#'ides basi$ in#rma!i#n ab#u! gene!i$s in $lear language.

Bha! d#es i! mean i a dis#rder seems !# run in m" amil"C

Bha! is a $hr#m#s#meC

an $hanges in !he number # $hr#m#s#mes a%e$! heal!h and de'el#&men!C

Are $hr#m#s#mal dis#rders inheri!edC

)hese lins &r#'ide addi!i#nal gene!i$s res#ur$es !ha! ma" be useul.

ene!i$s and Eeal!h

Res#ur$es #r 7a!ien!s and @amilies

Res#ur$es #r Eeal!h 7r#essi#nals

Bha! gl#ssar" deni!i#ns hel& i!h unders!anding Klineel!er s"ndr#meC

aneu&l#id" = a!"&i$al = $an$er = $ell = $ell di'isi#n = $hr#m#s#me = $hr#ni$ =

$r"&!#r$hidism = disabili!ies = disabili!" = egg = g"ne$#mas!ia = h#rm#ne =

h"&#g#nadism = h"&#s&adias = iner!ili!" = inheri!ed = mi$r#&enis = m#sai$ =

n#ndis?un$!i#n = &#&ula!i#n = &uber!" = re&r#du$!i'e $ells = se*

$hr#m#s#mes = s&erm = s"ndr#me = !es!es = !es!#s!er#ne = !ris#m"

6#u ma" nd deni!i#ns #r !hese and man" #!her !erms in !he ene!i$s

E#me Reeren$e l#ssar".



ee als# Unders!anding Medi$al )ermin#l#g".

Reeren$es

)he res#ur$es #n !his si!e sh#uld n#! be used as a subs!i!u!e #r &r#essi#nal

medi$al $are #r ad'i$e. Users seeing in#rma!i#n ab#u! a &ers#nal gene!i$

disease+ s"ndr#me+ #r $#ndi!i#n sh#uld $#nsul! i!h a qualied heal!h$are

&r#essi#nal. ee E# $an ( nd a gene!i$s &r#essi#nal in m" areaC in !he

Eandb##.



+o, do you get K#ine)e#te! Synd!ome*

Klineel!er s"ndr#me is a gene!i$ dis#rder !ha! a%e$!s males. Klineel!er

s"ndr#me #$$urs hen a b#" is b#rn i!h #ne #r m#re e*!ra $hr#m#s#mes.

M#s! males ha'e #ne 6 and #ne $hr#m#s#me. Ea'ing e*!ra

$hr#m#s#mes $an $ause a male !# ha'e s#me &h"si$al !rai!s unusual #r

males.

'&t &!t o) te body does K#ine)e#te! Synd!ome &/ect*

Klineel!ers s"ndr#me is a gene!i$ $#ndi!i#n !ha! #nl" a%e$!s males. A%e$!ed

males ha'e an e*!ra $hr#m#s#me. Males i!h Klineel!ers s"ndr#me ha'e

small !es!es hi$h d# n#! &r#du$e en#ugh # !he male h#rm#ne !es!#s!er#ne

be#re bir!h and during &uber!".

+o, does K#ine)e#te!0s Synd!ome occu!*

K#ine)e#te! synd!ome occu!s as a resul! # a rand#m err#r !ha! $auses a

male !# be b#rn i!h an e*!ra se* $hr#m#s#me. / !he 49 human

$hr#m#s#mes+ !he !# se* $hr#m#s#mes de!ermine a &ers#ns se*. (n

emales+ b#!h se* $hr#m#s#mes are ,ri!!en as . Males ha'e an and a

6 se* $hr#m#s#me ,6.