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Table 4 Kallman syndrome: data from Presidia in Tuscany

From: The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases

Single presidium RTMR data

All presidia RTMR data

Single presidium %

Presidium

(Healthcare Company-Department/Unit)

Tot CASES FROM 2000 (FD OR CONT)

Residents

Tot CASES from 2014 (FD OR CONT)

Residents (%)

Tot CERT FROM

27/5/17

Tot TP from

27/5/17

Tot CASES

Tot CERT

TOT TP

% CASES

% CERT

% TP

Presidium 1

Endocrinology and andrology

29

26

18

94

3

1

62

16

17

29.0

18.8

5.9

Presidium 1

Genetics

2

2

1

100

0

0

62

16

17

1.6

0.0

0.0

Presidium 1

Endocrinology

8

7

2

50

1

1

62

16

17

3.2

6.3

5.9

Presidium 1

Pediatric gynecology

3

2

1

100

0

0

62

16

17

1.6

0.0

0.0

Presidium 2

Endocrinology 1

7

2

3

33

0

0

62

16

17

4.8

0.0

0.0

Presidium 2

Endocrinology 2

11

6

11

55

8

8

62

16

17

17.7

50.0

47.1

Presidium 2

Molecular genetics

9

2

9

22

0

0

62

16

17

14.5

0.0

0.0

Presidium 2

Clinical genetics

1

1

1

100

0

0

62

16

17

1.6

0.0

0.0

Presidium 2

Pediatric endocrinology

4

3

3

100

3

7

62

16

17

4.8

18.8

41.2

Presidium 3

Congenital bone diseases

1

1

1

100

1

0

62

16

17

1.6

6.3

0.0

Presidium 3

Genetics

8

6

2

100

0

0

62

16

17

32

0.0

0.0

Presidium 4

Genetics

1

1

1

100

0

0

62

16

17

1.6

0.0

0.0

  1. FD first diagnosis, CONT follow-up visit, TP treatment plans, CERT = certifications
  2. In the table only most relevant Presidia for Kallman syndrome are shown. Inactive Presidia at the moment of data analysis have been omitted