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. 2021 Jul 15;108(8):1526–1539. doi: 10.1016/j.ajhg.2021.06.013

Table 1.

Clinical and molecular features of affected individuals

Feature Family 1 Family 2 Family 3 Family 4 Family 5 Family 6
Individuals II.1 II.2 I.1 II.2 (i) II.4 III.1 II.1 I.2 II.1 I.1 II.1 (i) II.1 (i) II.2
Gender male female male female male female female female female male male male male
Age at diagnosis <5 years <5 years forties <5 years <5 years <5 years <5 years <5 years <5 years preteen <5 years preteen preteen
Hormone deficiency at diagnosis GH, TSH GH, TSH GH GH GH GH GH, TSH, PRL TSH GH, TSH GH GH GH GH
Height at diagnosis (SDS) N/A N/A −3.7 −5 −5.3 N/A −4 −5.42 −3.45 −4.2 −4.15 N/A N/A
rhGH treatment N/A N/A no yes yes yes N/A yes yes yes yes yes N/A
Final height (cm/SDS) N/A N/A 150/−3.7 156.5/−0.9 165/−1.5 N/A N/A 150.9/−2.67 still growing 147.9/−3.66 still growing N/A N/A
Pituitary hormone deficiencies GH, TSH GH, TSH GH GH GH GH GH, TSH, PRL GH, TSH, PRL, (ACTHa) GH, TSH, PRL, (ACTHa) GH GH GH GH
Pituitary MRI disrupted stalk disrupted stalk normal normal normal N/A normal normal normal N/A APH normal N/A
Brain MRI N/A N/A N/A N/A N/A N/A N/A 1 cm left frontal and parietal lobe abnormality normal normal normal N/A N/A
Dysmorphic features none noted none noted none noted large forehead none noted N/A N/A intellectual disability, strabismus, astigmatism, nystagmus, dysplastic thyroid gland macroglossia, bilateral hearing impairment, developmental delay, dysplastic thyroid gland none noted short stature, frontal bossing, high pitched voice N/A N/A
Molecular findings (heterozygous) c.148T>G c.148T>G c.152T>G c.152T>G c.152T>G c.152T>G c.155T>G c.157T>G c.157T>G c.150T>G c.150T>G c.153T>A c.153T>A
p.Ser50Ala p.Ser50Ala p.Ile51Ser p.Ile51Ser p.Ile51Ser p.Ile51Ser p.Leu52Trp p.Ser53Ala p.Ser53Ala p.Ser50= p.Ser50= p.Ile51= p.Ile51=

Abbreviations are as follows: i, index case; N/A, not available; MRI, magnetic resonance imaging; rhGH, recombinant human growth hormone; APH, anterior pituitary hypoplasia; SDS, standard deviation score; ACTH, adrenocorticotropin.

a

Diagnosed in late twenties for I.2 and newborn for II.1.