congenital hypothyroidism 06.08.2015

8/20/2019 Congenital Hypothyroidism 06.08.2015

1/12

Morning Report

6/8/15Laura L. Brown, MD/PGY-3


2/12

Case Presentation:

Overnight in the WBN…HPI: Term, G, !8 "our o#$ ma#e in%ant wit"poor %ee$ing &e'on$ar( to per&i&tent $i)'u#t(#at'"ing an$ poor oromotor 'oor$ination.

$$itiona##( wit" new#( note$ "(pot"ermia *T 36+

Birth History: Born at 1 an$ !/ wga to a !8(o G!P11 mom ia a'uum-a&&i&te$ 02D%o##owing pro#onge$ #aor w/ 0R4T&. pgar& ,

, re7uire$ /D/.Mom 9/-, GB po&itie ut a$e7uate#( treate$.

:omp#i'ate$ ( materna# oe&it(, %ai#e$ 1 "r GTT,$e#a(e$ prenata# 'are *!1 wee;&+


3/12

:a&e Pre&entation,

:ont


4/12

P"(&i'a# A@amB 3.8;g *8i#e+, Lengt"'m *13i#e+, : 35'm *5i#e+C T 36, P 18, BP3/3, R 38

GA0 0on-$(&morp"i' in%ant eeping 'om%orta#( in 0D

AA0T 4E4 an$ not en#arge$, no ma'rog#o&&ia, RR pre&ent /#, PARRL, norma#e@terna# ear&, no an;(#og#o&&ia, no mi'rognat"ia, MMM, nare& patent /#.

:2 RRR, n# 1/!, II-III/VI holosystolic murmur at LUSB radiatingthroughout the recordium, $i&ta# pu#&e& !9 /#, 'ap reF## ! &e' t"roug"out.

RAP :TB, n# EB.

BD 9B, &o%t, 0T/0D, no M or ma&&e&. Small um!ilical hernia noted" T"ree-e&&e# 'or$.

G 0orma# un'ir'um'i&e$ ma#e genita#ia.

DARM #aundiced to uer chest$ mild %" tox"

0ARE rou&e& appropriate#( wit" e@am, su!tly hyotonic throughout,norma# neworn reHe@e&, oorly coordinated suc&/s'allo'


5/12

DiIerentia# Diagno&i&In(ectious

0eonata# &ep&i&/meningiti& *GB, A. :o#i, 2+, pneumonia

)esiratory

Me'onium a&piration, &pontaneou& pneumot"ora@

Cardiac

:D *$u'ta#-$epen$ent #e&ion+

*eta!olic/+enetic

>norn error o% metao#i&m, "(pog#('emia, "(po'a#'emia, "(pot"(roi$i&m,Be';wit"-ie$emann &(n$rome, Pra$er-i##i &(n$rome, geneti' &(n$rome 0E

+astrointestinal

0A:

,eurological

>ntra'rania# "emorr"age, &tru'tura# rain anoma#(

ther

rong $ate& *in%ant preterm an$ LG+


6/12

Eur or;-up

:B: w/ $iI, :RP, g#u'o&e wn#C Bi#i at #ig"t #ee#C:4 'ount& wn#C #oo$ an$ :4 'u#ture& 0G Fna#

.SH 0mU/L$ Free .1 2"ng/dL$

t"(rog#ou#in pen$ing

T pea;& aroun$ at 6-8 aroun$ 3 min o% #i%e,$e'rea&e& to ! aroun$ ! "our& o% #i%e, an$ to 6-1 aroun$ 1 wee;

:JR unremar;a#e, e'"o'ar$iogram 'onFrme$&ma## 2D


7/12

:ongenita#

(pot"(roi$i&m1!-1 neworn&*ost cases 30456 are soradic

Ri&; %a'tor& M, prematurit(, mu#tip#e ge&tation, %ema#e gen$er *!1+, T!1 *15neworn&+, i&pani' et"ni'it(

Mo&t 'ommon 'au&e i& thyroid dysgenesis *agene&i&, "(pop#a&ia, ore'top(+

Rare 'a&e& a&&o'iate$ wit" LE4 mutation& in PJ-8, TT4-!, an$ 0KJ!.1/.5

Et"er etio#ogie& re&i&tan'e to T, auto&oma# re'e&&ie $i&or$er& o%t"(roi$ "ormone &(nt"e&i& an$ &e'retion, $e%e't& in t"(roi$ "ormone

tran&port or metao#i&m, re&i&tan'e to t"(roi$ "ormone, 'entra#"(pot"(roi$i&m, transient hyothyroidism, #arge "epati' "emangioma&

*ost common re7enta!le cause o( intellectual disa!ility

>ner&e re#ation&"ip etween age at '#ini'a# $iagno&i& an$ treatment initiation an$inte##igen'e 7uotient #ater in #i%e


8/12

See U.o8ate:#ini'a# %eature& an$ $ete'tion o%'ongenita# "(pot"(roi$i&m

: i #


9/12

:ongenita#(pot"(roi$i&m :#ini'a#

Mani%e&tation&*ost 39456 are asymtomatic at !irth

Signs and symtoms:

Term or po&t$ate&

0orma# ant"ropometri'&, t"oug" weig"t i#e o%ten proportiona##("ig"er *m(@e$ema+

Poor %ee$ing/weig"t gain, $e'rea&e$ a'tiit(, #arge anterior%ontane##e, aun$i'e, $e'rea&e$ &too#ing, "(potonia, "oar&e 'r(,'oar&e %a'ia# %eature&, ma'rog#o&&ia, umi#i'a# "ernia,mott#e$/'oo#/$r( &;in, pa##or, anemia, a&en'e o% $i&ta# %emora#

epip"(&i&

ssociated congenital mal(ormations:

Cardiac, Rena#/urinar( tra't, G>, &;e#eta#

:ongenita# "(pot"(roi$i&m 9 '#e%t pa#ate TT4-! mutation

:ongenita# "(pot"(roi$i&m 9 pu#monar( $i&ea&e 9 neuro#ogi'

anorma#itie&

0KJ!.1 mutation


10/12

:ongenita#

(pot"(roi$i&m


11/12

a!sence o(distal (emoral

eihysisRa$iograp" o% LLA o% two in%ant&, &"owing on t"e #e%t.Ra&togi an$ La4ran'"iOrphanet Journal of Rare Diseases !1 4: 1


12/12

:ongenita# (pot"(roi$i&mManagement

Aar#( $iagno&i& an$ t"(roi$ "ormone rep#a'emente%ore 1-13 $a(& o% #i%e, wit" norma#iNation o%t"(roi$ "ormone #ee#& ( 3 wee;&

Leot"(ro@ine 1-15m'g/;g/$a( *O5m'g+

T an$ %ree T two wee;& a%ter initiation o%#eot"(ro@ine, an$ eer( two wee;& unti# #ee#& "aenorma#iNe$C t"en eer( 1-3 mont"& %or t"e Fr&t 1!mont"&, eer( !- mont"& etween 1-3 (ear& o% age,an$ eer( 6-1! mont"& unti# growt" i& 'omp#ete.

Goa# %ree T in upper "a#% o% norma# range, &erum T 5m/L

0o #i7ui$ %ormu#ation Q 'ru&"e$ pi##&

o( $e'rea&e& a&orption an$ metao#i&m

congenital hypothyroidism 06.08.2015

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