Table 2.
Patient Exam Findings and Radiology Studies at Presentation to the NIH
| Age at Presentation to the NIH | Height | Skin Pigmentation | Gynecomastia | Testes/Pubic Hair (PH) | Scrotal US | Bone age (BA) and Predicted Adult Height (PAH) | |
|---|---|---|---|---|---|---|---|
| 1 | 4.6 y | 99.9th percentile (+3.3 sd) | · Freckling on lower lip | · Right 8 × 9 cm | · Right 12 mL | · Right, micro-calcifications and a hydrocele | · BA 10 y |
| · Brown papule left thigh | · Left 10 × 10 cm | · Left 10 mL | · Left, several irregular echogenic foci, measuring up to 2 mm but most less than 1 mm | · PAH 161.4 cm | |||
| · CAL left abdomen | · No PH | ||||||
| 2 | 5.2 y | 99.9th percentile (+3.1 sd) | · Two CAL, 13 × 15 cm and 2 × 2 cm, on back | · 10 × 9 cm b/liter | · Right 6 mL | · Right 1.6 × 1.2 × 3 cm | · BA 9 y (1 month prior) |
| · CAL 30 × 17 cm on chest | · Left 5 mL | · Left 2.8 × 1.1 × 1.7 cm | · PAH 174.2 cm | ||||
| · No PH | |||||||
| 3 | 8.6 y | 99.5th percentile (+2.6 sd) | · Dark pigmented lines, freckling on lower lip | · Right 4 × 5 cm | · 10 mL b/liter | · Right – 2.9 × 1.4 × 2 cm | · BA 10 y (3 months prior to presentation) |
| · 0.5 cm skin tag on neck | · Left 7 × 7 cm | · No PH | · Left – 2.7 × 1.3 × 2 cm | · PAH 194.2 cm | |||
| · Lentigenes on fingertips | · Microcalcifications b/liter | ||||||
| 4 | 8.7 y | 96.6th percentile (+1.8 sd) | · Freckling on lower lip | · Tanner IV sized b/liter | · Right 12 mL | · Right 1.5 × 1.7 × 3.3 cm | · BA 10.5 y |
| · Left 10 mL | · Left 3.2 × 2 × 1.5 cm | · PAH 163.8 cm | |||||
| · Hydroceles b/liter | · Several echogenic lesions b/liter | ||||||
| · No PH | |||||||
| 5 | 10.1 y | 99.5th percentile (+2.6 sd) | · Freckling on lips | · 5 × 6 cm b/liter | · 10 mL b/litera | · Right 2.5 × 1.4 × 2.5 cm | · BA 13.5 y |
| · Left 4.6 × 2.5 × 2.1 cm | · PAH 182 cm | ||||||
| · Many punctate densities | |||||||
| 6 | 7.5 y | 87.3rd percentile (+1.1 sd) | · 40–50 brown to black ink macules on central face, 2–4 mm | · Tanner II sized b/liter | · Right 8 mL | · Right 2.5 × 1.6 × 2.8 cm | · BA 10.5 y |
| · 2 mm light brown macule on lower lip | · Left >25 mL (lemon sized) | · Left 3.6 × 3.9 × unmeasurable cm, 1 × 0.5 cm fluid collection without vascularity, ring shape calcifications, central necrosis | · PAH 172.8 | ||||
| · 3 × 3.5 cm macule right axilla | · Tanner II PH |
sd, standard deviation; CAL, café' au lait; cm, centimeters; mL, milliliters; b/liter, bilaterally.
a
Patient 5 refused genital exam at time of presentation to the NIH. Testicular volume based on prior exam with referring endocrinologist.