County Clinical Emergency Hospital, Arad, Romania,,Vasile Goldis,, Western University of Arad

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Szeged, 13 december, 2011

CONGENITAL HYPOTHYROIDISM EARLY DIAGNOSED AND TREATED

WITHOUT NEWBORN SCREENING PROGRAM

Authors: D. Teodorescu MD, Ph.D Assistant Professor D. Burdan MD, PhD, A. Filimon, MD, PhD

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 diagnosticated 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

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, pre-

eclampsia(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

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.

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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.

Birth was by C-section in cranial presentation

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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o The symptomatology was sugestive: - particular face (with half-open mouth, macroglossia)

o - prolonged jaundiceo - umbilical herniao - abnormal cry o - hypoton syndrome

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PARACLINICAL INVESTIGATIONS

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 - 464,6300µU/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)10

POSITIVE DIAGNOSIS

Based on the history, clinical examination, and paraclinical investigation there was established the positive diagnosis:

1.Congenital hypothyroidism (congenital myxoedema TSH = 464,630µU/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 is Euthyrox LT4 8-15 mg/kg,Euthyrox 100mg tablets- ½ tb per day,mornings, along six weeks. At the discharge of the pacient from the hospital , we recommand endocrinological follow-up.

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TREATMENT

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 HypothyroidismNo standardized case definitionDefined as inadequate thyroid hormone production

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 impactedo Congenital untreated hypothyroidism is a cause of severe cerebral injury. The incidence of the disease is 1 :3500 -4000 newborn. 14

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.

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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szeged, 1

3 d

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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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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 HC, growth retardation may develope, which becomes evident at 3-6 months, accompanied by neuro-psychiatryc development disorders and some neurological disabilities.

HC can be accompanied by other cardiovascular abnormalities (pulmonary stenosis, atrial and ventricular septal defect)

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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

CONCLUSIONS The case is suggestive for a classic

congenital hypothyroidism, early diagnosed, without a newborn screening program. The prognosis of the intellectual 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 the 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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CH Untreated

Could cause disorders in: Growth problems Developmental delays Behavioral/emotional

problems Deafness or blindness Retardation Seizures Coma, sometimes

leading to death

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NBS Screening

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

treatmento Ensure the infant receives appropriate treatment

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