Transcript CONGENITAL HYPOTHYROIDISM- EARLY DIAGNOSTICATED

CONGENITAL HYPOTHYROIDISM
EARLY DIAGNOSED AND TREATED WITHOUT
NEWBORN SCREENING PROGRAM
County Clinical Emergency Hospital, Arad, Romania
,,Vasile Goldis,, Western University of Arad
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Authors:
D. Teodorescu MD, Ph.D Assistant Professor
D. Burdan MD, PhD,
A. Filimon, MD, PhD
Szeged, 13th december, 2011
The purpose of the presentation
The aim of this presentation is to show you a
newborn case report with congenital
hypothyroidism; in a nonendemic area
diagnosed and treated early without
a newborn screening program.
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MATERIAL. METHOD
We present a female newborn case report, 3 weeks old, born in a
nonendemic area and diagnosticated with classic hypothyroidism.
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S.C., female, date of bird 10.06.2010,
3400g birth weight, 39 weeks gestational
age, who lives in Arad.
HISTORY
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Mother- S.M., -32 years old, first level of schooling,
- BIII blood group, negative Rh.( without
isoimunisation ).
- antenatal obesity. She hasn't received any
antityroidian treatment and she has never been
investigated for any endocrine pathology.
Father- S.C., 29 years old, healthy
Pregnancy evolution:- GI PI, followed-up by obstetrician,
- high obstetrical risk, preeclampsia(180/120mmHg).. She has won 25 kilos in body
weight. She delivered her baby by C-section, in cranial
presentation. The placenta had a normal aspect.
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THE NEWBORN
Birth was by C-section in cranial presentation
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The newborn cames from high obstetrical risk
pregnancy, Apgar score 8 at 1 and 5 minutes
after birth. The newborn was placed into the
rooming-in system.
On the fourth day of life the neonatal jaundice
was intensified, intermittent phototerapy
beeing required.
The newborn was discharged from the hospital
on the fifth day of life, with the regression of the
jaundice, breast-fed.
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EVOLUTION
On the twelfth day of life the newborn was
readmitted to the hospital for prolonged neonatal
jaundice and a cutaneous infection with
Staphylococcus.
The clinical examination
Pointed out the presence of :
-muco-cutaneous jaundice (Kramer 4),
-characteristic facial features with macroglossia,
- hoarse-sounding cry,
- an anormally large distance between the nipples,
- protuberant abdomen,
- decreased activity and abnormally low muscle
tone
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The symptomatology was sugestive:
particular face (with half-open mouth,
macroglossia)
- prolonged jaundice
- umbilical hernia
- abnormal cry
- hypoton syndrome
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PARACLINICAL INVESTIGATIONS
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Hb 20,11g%
FL (N61%, L28%, M3%, Eo 5%, b 0%)
PLT 280000/mm³
C reactive protein – negative
Umbilical secretion- Staphylococcus aureus
Bilirubin T 11,2mg%, D 2,12 mg%, I 9mg%
Calcium 1,24 mmnol/L
Glucose 66 mg%
TEOAE auditiv test – refer bilateral
Abdominal ultrasound - normal finding, without
modifications
Cranial ultrasound –cvasinormal cerebral finding
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PARACLINICAL INVESTIGATIONS
TSH- basal thyroid-stimulating hormone 464,63µU/ml (0,49-4,67), controlled result in two
separate series
 FT3 Free triiodothyronine – 0,01 pg/ml
(normal value 1,45-3,48 pg/Ml)
 FT4 Free serum thyroxine
- 0,18 ng/dl ( 0,71-1,85)
- 2,3 pmol/L (9,13- 23,80)
 (AXSYM analyser,ABBOT reactiv, MEIA
method)
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POSITIVE DIAGNOSIS
Based on the history, clinical examination, and
paraclinical investigation there was established
the positive diagnosis:
 1.Congenital hypothyroidism (congenital
myxoedema TSH = 464,63µU/ml.)
 2.Cutaneous infection with Staphylococcus
aureus
 3.Three weeks old newborn.
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TREATMENT
The replacement treatment was early introduced
at the moment of the diagnosis, at three weeks of
age, in colaboration with the endocrinologist
consultant.
 After the endocrinological consultation, the
treatment was Euthyrox LT4 8-15
µg/kg,Euthyrox 100µg tablets- ½ tb per
day,mornings, along six weeks. At the discharge
of the pacient from the hospital , we
recommanded endocrinological follow-up.
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TREATMENT
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The disease outcome-is favourable under the
instituated treatment.The newborn was
discharged from the hospital after eight days
with the recomandation of endocrinological and
laboratory follow-up.
The investigations continued in the Timisoara
Children Hospital. They found an associated
congenital heart disease (patent foramen ovale),
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BACKGROUND
Congenital Hypothyroidism
 No standardized case definition
 Defined as inadequate thyroid hormone
production
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Usually characterized by increased thyroid
stimulating hormone (TSH) concentration and
decreased thyroxin (T4) concentration.
Insufficient thyroid hormone impacts brain
development; specifically myelination and
neuronal connections are impacted
Congenital untreated hypothyroidism is a cause
of severe cerebral injury. The incidence of the
disease is 1 :3500 -4000 newborn.
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Hypotalamic pituitary-thyroid axis
T4 is stimulated by secretion of TSH by the pituitary.
 Low T4 (negative feedback) causes hypothalamus to
secrete thyrotropin releasing hormone (TRH) which
stimulates release of TSH thereby stimulating the
thyroid gland to increase secretion of T4.
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szeged, 13 december, 2011
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When the thyroid does not respond to TSH stimulation
(primary CH), due to dysgenesis or
dyshormonogenesis, the result is low T4 and high
TSH.
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Etiology of HC
Dysgenesis (thyroid gland developmental defect)
 Dyshormongenesis (defects in thyroid hormone
synthesis)
 Mutations in thyroid development genes or TSH
receptor
 Defects in hypothalamus or pituitary (central or
secondary/tertiary hypothyroidism) ~ rare (1/25,000 –
1/100,000)
 Iodine deficiency
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o Some of the congenital hypothyroidism cases have
genetic origin. The genetical aspect is
polymorf.Some modifications are autosomal
recessive inherited
After its evolution, the primary hypothyroidism in
newborns is permanent or transient. The primary
permanent hypothyroidism includes the anteriorly
mentioned dysgenetic or dyshormonogenetic
hypothyroidism.
 Without an adequate treatment at children with CH,
growth retardation may develope, which becomes
evident at 3-6 months, accompanied by neuropsychiatryc development disorders and some
neurological disabilities.
 CH can be accompanied by other cardiovascular
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abnormalities (pulmonary stenosis, atrial and
ventricular septal defect)
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CONCLUSIONS
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The case is suggestive for a classic congenital
hypothyroidism, early diagnosed, without a
newborn screening program. The prognosis of the
intellectual development was good.
The substitutive treatment was early
administrated, after the diagnosis was
established, at three weeks postnatal age.
 It is highlighted the importance of the extension
of the screening in the whole country.
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Purpose of Newborn
Screening
*Program to screen for congenital and
inherited disorders
*These disorders may cause severe
mental retardation, illness or death if not
treated early in life
*If treated, infants may live
relatively normal lifes
*Results in medical cost savings
over time
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The untreated disorder can lead
to:
 Growth problems
 Developmental delays
 Behavioral/emotional
problems
 Deafness or blindness
 Retardation
 Seizures
 Coma, sometimes
leading to death
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NBS
Identification is a multi-step process
 Blood specimens from infants are
analyzed by the laboratory
 If a result is abnormal, laboratory staff
notifies case management staff
 Case management provides follow-up to
assist linking families with appropriate
providers to
o Confirm the test results and
o Ensure the infant has the disorder prior to treatment
o Ensure the infant receives appropriate treatment
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