Case Report
Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome
Table 1
Patient’s endocrine workup.
| | | Patient | References |
| | Thyroid function | | | | TSH | 2.7 | 0.5–4.5 mU/L | | T4 | 10.25 | 4.5–12.5 µg/dL | | Growth hormone secretion | | | | IGF1 | 345 | 106–435 ng/mL (Tanner stage II) | | IGFBP3 | 5.0 | 2.8–6.3 µg/mL (Tanner stage II) | | Adrenal function | | | | Cortisol | 530 | 150–800 nmol/L | | ACTH | 54 | 8–90 ng/L | | Prolactin | 5 | 2–18 ng/mL | | Gonadotrophins | | | | FSH | 5.0 | 4.7–9.5 mIU/mL | | LH | 4.3 | 2.1–13 mIU/mL | | Gonadal function Testosterone | 1200 | 310–7200 ng/L |
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IGF1, insulin-like growth factor 1; IGFBP3, insulin-like growth factor binding protein 3; ACTH, adrenocorticotropic hormone.
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