Case 603 -- A 13 year-old girl with short stature

Contributed by Oana Mihaela Radu, MD and Jeffrey Kant, MD, PhD


PATIENT HISTORY

The patient is a 13 year old girl, product of an uncomplicated pregnancy, born at full-term (3620g, 53.3cm '50 percentile). Apgar scores are unknown. Examination at birth was otherwise unremarkable. She has always had short stature. She did not progress on the growth chart. A bone age done in August 2005 (chronological age 10 yo) by her primary care physician yielded 6 years and 10 months.

PATIENT WORK-UP

Lab tests done in August 2005 showed TSH 1.85 milli-IU/mL, total T4 was 6.7 mg/dL, IGF-1 was 138 ng/mL(within normal limits). Xrays from 2008 show pelvic tilt suggesting possible leg length inequality, mild thoracolumbar levoscoliosis, possible upper to middle thoracic vertebral body compression fractures. A DEXA scan performed at the same time as the Xrays showed the following:

GENETIC TESTING


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