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