Figure 3.

Delayed onset of PTH resistance in patient W-III/12. Serum calcium, phosphorus, and PTH levels were measured during follow-up visits of the patient—in whom loss of methylation at GNAS exon A/B was identified at birth—and the 4.4-kb deletion was discovered subsequently. Normal ranges are indicated by gray shading. Treatment with an active vitamin D analog (Rocaltrol) was first started at age 21 mo (vertical arrow). However, the parents discontinued the treatment shortly thereafter, and continuous treatment was not resumed until the child was 30 mo old (horizontal arrow).