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Table 1 Clinical manifestations of patients with McCune–Albright syndrome

From: Clinical and endocrine characteristics and genetic analysis of Korean children with McCune–Albright syndrome: a retrospective cohort study

Patient

Sex

Age at diagnosis (years.months)

Symptoms at diagnosis

SD

FD

PPP

Other endocrinopathies

Genetic analysis

1

F

5

Breast development

+

+

+

 

NA

2

F

6

Orbital area swelling, left

-

+

+

 

NA

3

M

5.3

Pathological fracture, right femur

+

+

-

GHHb

Detected, bloodc (Arg201His)

4

M

1.9

Pathological fracture, left femur

+

+

-

HT, HP

Detected, bloodc (Arg201His)

5

F

9

Forehead swelling, left

+

+

+a

 

ND

6

F

11

Vaginal bleeding

+

+

+

 

ND

7

F

3.4

Vaginal bleeding

+

+

+

 

NA

8

F

6.7

Vaginal bleeding

-

+

+a

 

ND

9

F

3

Vaginal bleeding

+

+

+

 

ND

10

F

1.6

Vaginal bleeding

+

+

+

HT, HP

NA

11

F

7.1

Exophthalmos, left

+

+

+a

 

NA

12

M

16

Headache

-

+

-

GHHb

Detected, pituitary adenoma (Arg201Cys)

13

F

4

Vaginal bleeding

-

+

+

 

NA

14

F

3.1

Vaginal bleeding

+

-

+

 

ND

  1. SD skin dysplasia (café au lait spots), FD fibrous dysplasia, PPP peripheral precocious puberty, GHH growth hormone hypersecretion, HT hyperthyroidism, HP hypophosphatemia, NA not available, ND not detected
  2. a Patients who subsequently developed central precocious puberty
  3. b Patients exhibited a pituitary adenoma by pituitary MRI
  4. c GNAS mutation was detected by MEMO-PCR