Title: Congenital Hypothyroidism: A Ran Sacker Escaping Under the Nose

ABSTRACT: It is vital to diagnose thyroid gland dysfunctions as early as at birth due to its adverse effects

on a multitude of other crucial organ systems. But sometimes it manages to sneak under the physician's nose

as it fails to present with the usual symptoms at birth only to be detected later when it is in a full-blown state.

Hence it is essential to follow up the neonate for at least six weeks post-delivery.

KEYWORDS: Congenital Hypothyroidism, Neonatal Screening, Thyroid gland.

INTRODUCTION: Congenital hypothyroidism (CH) has a worldwide incidence of approximately 1 in 2000-4000

live births[1], with 7.3-24% of affected new-borns also having an accompanying congenital malformation (CM)

[6].
There are several organ manifestations due to the deficiency of thyroxine hormone which may or may not

present with the classical symptoms at birth implicating that it is imperative to constantly monitor the levels of the

hormone by neonatal screening and even after a duration of few weeks to months.

CASE REPORT

A 3 and a half-month-old girl baby was referred to the neonatal department with complaints of progressive

abdominal distension for the past one month and inability to pass stools since three days before admission

which was noted by her mother. The baby used to pass once a week. The mother also noticed that the baby

was not gaining weight. Past medical history was unremarkable.

She was a born at term baby and weighed 2300 g. The mother denied having taken any medication during

pregnancy. The mother reported that the baby had a hoarse cry and slept throughout the day and she had to

wake the baby for feeding. The infant was breastfed. The infant received routine immunizations.

The baby was lethargic and sick looking at admission. The head appeared small in size, and anterior fontanels

were wide open measuring 4.5x4.5cms.The baby had coarse facial features with the rough texture of skin as

shown in Figures 1 and 2. Vital parameters measured were within the normal limits for age. She weighed

2500g at the time of examination. The abdomen was grossly distended (Figure 3), with an abdominal girth of

50 cm and there was presence of engorged veins over the abdominal wall. There was no organomegaly.

Abdominal radiographs of the infant were done in the pediatric emergency department and demonstrated

COLONOMEGALY and dilated bowel loops as seen in Figure-3.

An ultrasonography of the neck revealed the absence of thyroid glands in the Thyroid bed/neck/base of tongue-

Hypoplastic/agenesis. Thyroid scintigraphy was further suggested to get a clearer picture. Parotid and

submandibular glands are normal bilaterally. No focal lesions/calcification. No significant lymphadenopathy.

Carotid and jugular vessels are normal bilaterally.

The Results of cardiac evaluation by echocardiography showed signs of congenital heart disease indicated by

left to right shunt, thickened and doming pulmonary leaflets, mild valvular pulmonary stenosis and situs

solitus.

DISCUSSION

The symptoms and signs may or may not develop gradually after birth, hence the diagnosis of hypothyroidism

may be confusing at first. In the initial evaluation of the patient, abdominal distension with constipation

suggested Hirschsprung disease due to abnormally distended colon observed in the radiograph, slow growth

and delayed developmental milestones. However, this aetiology appeared unlikely with the normal serum

electrolyte levels, child’s adequate appetite, the absence of febrile episodes, no history of vomiting and passage

of meconium on the day of delivery. Dysmorphic facial features together with the failure to thrive despite

proper nutrition supported a metabolic aetiology. The onset of constipation and a protuberant abdomen may

suggest a congenital disorder such as biliary atresia, Volvulus, Intussusception, Pyloric stenosis, GERD. Slow

linear growth elicited by delayed developmental signs, a large head with immature body proportions as well

as radiological features of epiphyseal dysgenesis may be mistaken for a skeletal dysplasia or pituitary

dwarfism.

Ultimately, the most striking result from the haematology reports were low T3 and T4 levels along with

elevated TSH levels indicative of a thyroid gland anomaly which was further ascertained by the thyroid

scintigraphy revealing the absence of gland in the thyroid bed.

The fact that neonates who have severe hypothyroidism have no evidence of this condition at birth suggests

the possibility of the transplacental transfer of thyroid hormones before birth. Cord serum of affected neonates,

T4 levels were from 35 to 70 nmol per litre. Since the thyroid gland of such fails to produce any T4 by

themselves, the T4 must have been of maternal origin. The biologic half-life of serum T4 is 3.6 days. A study

carried out in 15 neonates with agenesis of the thyroid, the serum levels and the disappearance of T4 were the

similar to neonates with a total organification defect, indicating the T4 from the mother. But the fact cannot
be denied that there is an insignificant transfer of maternal thyroid hormones as depicted by the statement that

thyroid agenesis is a destructive process that is not completed within the first week of life 3.

Levothyroxine is the drug of choice the recommended starting dose was 25 mcg/day. The paramount goal of

treatment is to swiftly raise the serum T4 above 130 nmol/L (10 µg/dL) and bring back the serum TSH levels

to normal. The infant passed stools on the administration of glycerin enema.

Congenital hypothyroidism is the most common treatable causes of mental retardation. Studies have revealed

that the timing of starting the therapy is crucial to the neurologic outcome2. Even if diagnosed at an early

stage, neurologic development may suffer if treatment is not managed efficaciously in the first two to three

years of life. Hence, it is vital for such patients to receive an early treatment and subsequent follow up.

A documentation of delayed diagnosis are as follows: 62.5% were diagnosed after 1 year of age, 10.5%

between 3 months and 1 year of age and 27% were diagnosed between 1 month to 3 months of life5.Thus to

sum up new-born screening for thyroid hormones aims at the earliest possible recognition of disorders to

prevent the dangerous consequences due to multiple organ manifestations. But screening is not always a

confirmatory diagnosis and requires further investigations within six weeks of birth to avoid the grave disorder

to sprout and have several organ complications.

LEARNING POINTS
“What is already known on this topic”
Proper functioning of the thyroid gland is vital for the proper functioning of myriad systems of the body.
Congenital hypothyroidism can adversely affect the cognitive abilities of a person.
Early diagnosis and prompt treatment can prevent the irreversible damage to the brain functions.
“What this paper adds”
There can be idiopathic causes of hypothyroidism.
The patient can present with unusual manifestations which can pose a conundrum for diagnosis.
It is not always necessary that the new born presents with the symptoms of hypothyroidism hence it is of
utmost importance that follow-up screening for at least six weeks should be done.

REFERENCES

1. Rastogi M, LaFranchi S. Congenital hypothyroidism. Orphanet Journal of Rare Diseases. 2010; 5(1):17.
2. Mantri R, Bavdekar S, Save S. Congenital Hypothyroidism: An Unusual Combination of Biochemical

Abnormalities. Case Reports in Pediatrics, 2016; pp.1-3.

3. Vulsma T, Gons M, De Vijlder J. Maternal-Fetal Transfer of Thyroxine in Congenital Hypothyroidism

due to a Total Organification Defect or Thyroid Agenesis. Obstetrical & Gynecological Survey, 1990;

45(2): 115-116.

4. Cloherty J, Eichenwald E, Hansen A. Manual of Neonatal Care. Philadelphia: Wolters Kluwer; 2015:

pp.28-35.

5. Smallridge R, Ladenson P. Hypothyroidism in Pregnancy: Consequences to Neonatal Health. The Journal

of Clinical Endocrinology & Metabolism. 2001; 86(6): 2349-2353.

6. Lazarus, J. and Hughes, I. (1988). CONGENITAL ABNORMALITIES AND CONGENITAL

HYPOTHYROIDISM. The Lancet, 332(8601), p.52.

Table-1: LABORATORY REPORT OF THE PATIENT

TEST RESULT BIOLOGICAL REFERENCE INTERVAL

HAEMOGLOBIN (L)9.8 g/dL 14.0-22

HAEMOCRIT (L)28.8% 45.0-75.0

RBC COUNT (L)3.11*10^6/µ 5.0-7.0

SERUM (L)4.0 mg/dL 4.3-7.7mg/dL

PHOSPHORUS

SERUM (H)2.7 mg/dL 1.6-2.6mg/dL

MAGNESIUM

UREA(SERUM) (H)68 mg/dL 16.6-48.5 mg/dL

SERUM (H)1.1 mg/dL Premature:0.29-1.04 mg/dL

CREATININE Full term:0.24-0.85 mg/dL

SERUM SODIUM 133.0 mmol/L Premature:128-148 mmol/L

New born:133-146 mmol/L

Child:138-145mmol/L

SERUM POTASSIUM 4.3mmol/L 3.7-5.9mmol/L

TOTAL BILLIRUBIN 0.66mg/dL 0-24hrs:>/=8.0mg/dL

BILIRUBIN DIRECT 0.32mg/dL 0.0-0.6mg/dL

TOTAL 5.5g/dL 0-2yrs:5.6-7.5g/dL

PROTEIN(serum) Above 3yrs:6-8g/Dl

SERUM ALBUMIN 3.91g/dL 2.8-4.4g/dL

GLOBULIN (L)1.59g/dL 2-3.5g/dL

AST(ASPARTATE (H)151.0 IU/L Upto 32 IU/L

TRANSAMINASE)

ALT(ALANINE (H)90.0 IU/L Upto 33 IU/L

TRANSAMINASE)
ALKALINE 79 U/L <462 U/L

PHOSPHATASE(ALP)

TRIIDOTHYRONINE- (L)<0.195 0.73-2.88 ng/mL

T3 ng/mL

THYROXINE (L)<0.42 5.04-18.5 µg/mL

TOTAL-T4 µg/mL

THYROID 100>µIu/mL

STIMULATING

HORMONES(TSH)