Skip to main content

Table 1 Principal features at diagnosis in the 2 groups of patients with GNAS gene mutations and GNAS locus altered methylation

From: Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption

 

N° Subjects

Sex: F/M

Age

Ca (mEq/l)

P (mg/dl)

PTH (pg/ml)

TSH (μU/ml)

Gene mutation

46

29/17

4.8 (0.1–23.4)

4.3 (2.25–6.7)

6.8 (4–12.2)

308 (15.6–1200)

7.8 (1.6–22.1)

Locus altered methylation

28

16/12

10.5 (0.5–65)

3.6 (1.9–9.2)

6.9 (3.6–10.5)

358 (128–1532)

5 (3.36–8.95)

  1. Legend. Sex: Females/Males; Age: median age in years (range); Ca: median total serum Calcium levels (range); P: median serum Phosphate level (range); PTH: median serum PTH (range); TSH: median serum TSH level (range)