Congenital hypothyrodism

Ans. is ‘c’ i.e., Levothyroxine

Ans. is ‘a’ i.e., Growth retardation; ‘b’ i.e., Mental retardation within 2 years

Features of juvenile (congenital) hypothyroidism are :

o Open posterior fontanel and wide sutures                                              

o Umbilical hernia

o Large tongue –> Can cause respiratory difficulties                              

o Edematous, characteristic facies

o Rough dry skin which is cool & mottled                           

o Constipation

o Hypotonia, large abdomen, flaccid muscles                                          

o Pallor, hypothermia

o Sleepy, little cry, poor feed & chocking spells during feeding.            

o Sexual precocity occasionally

o Short neck with thick supraclavicular pad of fat may be present.

o Refractory anaemia common

o Marked physical & mental retardation, delayed social smile.      

o Slow pulse, cardiomegaly & Heart murmur.

o Short stature, normal head size with short extremities.                        

o Delayed dentition.

o Delayed relaxation of deep tendon reflexes.                                        

 o Open mouth with protuberant tongue

o Prolongation of physiological jaundice due to delayed maturation of glucuronide conjugation.

Ans. is ‘c’ i.e., Cold extremities

o Amongst the given options cold extremities is the best answer. o Prolongation of physiological jaundice is the earliest sign.

Ans. is ‘a’ i.e., Premature closure of posterior fontanelle

o There is delayed closure of posterior fontanelle.

Ans. A: Males more often affected

It is usually sporadic with a 2:1 female to male preponderance.

Thyroid dysgenesis is the commonest cause of permanent CH (80-85%).

Thyroid hormone synthetic defects account for 10% of all cases. These are inherited as autosomal recessive disorders. The defect can lie in iodide trapping or organification, iodotyrosine coupling or deiodination and thyroglobulin synthesis or secretion. The commonest of these is a defect in the thyroid peroxidase (TPO) activity leading to impaired oxidation and organification of iodide to iodine. These disorders usually result in goitrous hypothyroidism.

Majority of infants appear normal at birth.

Ideally universal screening at 3-4 days of age should be done for detecting CH.

Abnormal values on screening (T4 < 6.5 ug/dL, TSH >20mu/L) should be confirmed by a venous sample before initiating treatment.

Term as well as preterm infants with low T4 and elevated TSH should be started on L-thyroxine at a dose of 10-15ig/ kg/ day as soon as the diagnosis is made.

Regular monitoring should be done to ensure that T4 is in the upper half of normal range. The outcome of CH depends on the time of initiation of therapy and the dose of L-thyroxine used’

Ans. A i.e. Thyroid dysgenesis

Congenital hypothyroidism

• Large & open posterior fontanelle,
• Absent social smile & eyebrows,
• Growth retardation,
• Delayed puberty,
• Cold extremities,
• Large tongue,
• Prolongation of physiological jaundice &
• Epiphyseal dysgenesis