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Table 1 Table 1

From: Pseudohypoparathyroidism: phenotypic spectrum in kindred

 

Patient A

Patient B

Mother

AHO Features

   

Brachydactyly

+

+

+

Short stature

+

(136cm, - 4.05 SDS)

+

(134cm, -2.84 SDS)

+

(145cm, -2.79 SDS)

Obesity

+

(32.44 kg/m2,+2.04 SDS )

-

-

Round face

+

+

-

Ectopic ossification

-

-

-

Cognitive dysfunction with need for special school

+

+

+

PTH (0.9 -6.2pmol/L)

26.4

27.2

8.1

Calcium (2.3-2.63mmol/L)

2.19

2.35

2.31

Phosphate (1.0-1.8 mmol/L)

1.4

1.7

1.2

FT4 (10.3-25.7pmol/L)

12.4

15.4

13.6

TSH (0.50-4.50 mIU/L)

8.05

8.36

3.42

FSH IU/L

7.7

9.5

 

LH IU/L

8.92

5.01

 

Estradiol pmol/L

87

169