Identification of a Novel Mutation in a Pseudohypoparathyroidism Family

Table 1

Blood biochemical and hormonal analysis.

	I b	II b	Normal value
Serum Calcium	2.56	2.39	2.0–2.8 mmol/L
Serum Phosphate	1.1	1.51	0.8–1.6 mmol/L
Plasma PTH	27.52	152.4	15–65 pg/mL
Plasma GH	4.216	4.763	<5 ng/mL
Plasma TSH	3.73	14.56	0.27–4.2 uIU/mL
Plasma Free T3	3.53	3.18	3.1–6.8 pmol/L
Plasma Free T4	18.23	8.47	12–22 pmol/L
Plasma LH	Normal	6.67	2.4–12.6 mIu/mL
Plasma FSH	Normal	11.34	3.5–12.5 mIu/mL
Plasma Estradiol	Normal	23.34	24.5–195 pg/mL
Plasma INS	13.34	15.29	2.6–24.9 uIU/mL

Values in italics represent means outside the reference range; I b represented patient’s mother; II b represented the patient.