Loading....
Coupon Accepted Successfully!

Paediatric

Open Flashcards

Endocrinology

Question
16 out of 35
 

A one year old child preents with short stature, letharry, & constipation. Clinical examination shows a palpable goiter. Laboratory investigations revealed a low T4 and elevated TSH which of the following is the most likely diagnosis. (AIIMS Nov 2012)



A Thyroid Dyshormonogenesis

B Thyroid Dysgenesis

C Central Hypothyroidism

D TSH Receptor Blocking Antibody

Ans. A

Thyroid Dyshormonogenesis

o This child has :-

i) Thyroid swelling

ii) Lowl T4 &HighTSH

iiI) Abnormal weight gain and poor activities

o All these suggests the diagnosis of congenital hypothyroidism due to thyroid disorder (In hypothalamic diseases, TSH levels will be low).

o The most common cause of non - endemic congerital hypothyroidism is thyroid dysgenesis.

i) In endemic regions – Most common cause of congenital hypothyroidism is iodinedeficiency in intrauterine and

neonatal period (worldwide).

ii) In non-endemic regions - Most common cause of congenital hypothyroidism is thyroid dysgenesis.

o However, in thyroid dysgenesis, thyroid gland does not enlarge to produce palpable goitre. So, this option is ex-

o Dyshormogensis is an uncommon cause of congenital goitrous hypothyroidism cases of congenital hypothyroidism. It results from a deficiency of or more enzymes (most commonly, thyroid peroxidase) involved in thyroid hormone synthesis or secretion.

Congenital Hypothyroidism

Goitrous (Palpabte Goitre present) Non Goitrous (No palpable Goitre)

o Thyroid Dyshormonogenesis

o Thyroid Dysgenesis

o Iodine Deficiency

o Thyroid Receptor blocking Antibodies

(Thyrotropin Receptor Antibodies)

o Placental passage of Antithyroid Drugs o Central Hypothyroidistn

Condition

Palpable Thyroid (Goitre)

T4

TSH

Thyroid Dysgenesis

No

Low

Elevated

Thyroid Dyshormonogenesis

Yes (Goitre)

Low

Elevated

TSH Receptor Blocking Antibody

No

Low

Elevated

Central Hypothyroidism

No

Low

Normal/Low


o so, amongst the given options, best answer is Dyshormogenesis.

o You keep in mind that the most common cause of congenital hypothyroidism with similar presentation (palpable goitre) is iodine deficiency.

Endocrinology Flashcard List

35 flashcards
1)
2)
3)
4)
5)
6)
7)
8)
9)
10)
11)
12)
13)
14)
15)
16)
17)
18)
19)
20)
21)
22)
23)
24)
25)
26)
27)
28)
29)
30)
31)
32)
33)
34)
35)