Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus

Table 1

Endocrine work up.

Test	Results	Interpretation
ACTH stimulation test-cortisol (μg/dl)	<1 (pre) ⟶ 24.8 (post)
ACTH (pg/ml)	17 (not elevated)	No adrenal insufficiency
FSH (mIU/mL)	2.77
LH (mIU/mL)	6.23	Appropriate for mini puberty
Comprehensive steroid panel	Normal
Thyroid function test	TSH 5.6 μU/ml, free T4 1.2 ng/dl	Normal