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. 2022 Feb 18;12(1):16–20. doi: 10.1055/s-0041-1742197

Table 2. Characteristics of patients with associated endocrine diseases ( n  = 12) .

Characteristic Frequency Percentage
Mean of age (y) 20.28 ± 20.67
Gender: male to female ratio 4:1 75:25
Consanguinity Positive 7 58.30
Negative 5 41.70
Mode of mutation Sporadic 7 58.30
Familial 5 41.70
Sporadic and consanguineous 5 41.70
Familial and consanguineous 2 16.67
NF-1 mutation Pathogenic variant 8 66.67
Likely pathogenic 2 16.67
Variants of uncertain significance 2 16.67