Case Report

Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant

Table 1

Initial laboratory values.

DescriptionValueReference range

Genetic
 Karyotype46, XX

Thyroid markers
 TSH, high sensitivity2.977 uIU/mL0.350–5.5 uIU/mL
 Thyroglobulin Ab<15.0 U/mL0.0–60.0 U/mL
 Thyroid peroxidase Abs<28.0 IU/mL1.0–60.0 IU/mL

Endocrine
 IGF-1 binding protein 32.6 mg/L1.1–5.2 mg/L
 IGF-169 ng/mL55–238 ng/mL

Renal
 UltrasoundNormal findings

Inflammatory markers
 Celiac diseaseNegative