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. 2018 Nov 6;18:78. doi: 10.1186/s12902-018-0307-6

Table 4.

Available growth data of CLAH cases due to StAR gene mutations

Author Ethnicity Relation Age at onset (month) Manifestations Ht (percentile) FAH (cm) FAH vs MP BA Treatment Karyotype Alleles Mutation
Khoury et al. [24] French Canadian siblings 11 typical NM NM similar significantly delayed HC, FC, SH 46, XY H p.L275P
French Canadian siblings 1.5 typical NM NM similar slightly delayed HC, FC, SH 46, XX H p.L275P
Fluck et al. [25] Caucasian siblings 10 typical NM 143 low NM HC, FC 46, XX C p.T44HfsX3
p.G221S
Caucasian siblings 14 typical NM 159.5 similar NM HC, FC 46, XY C p.T44HfsX3
p.G221S
Qiu et al. [9] Chinese 1.3 typical NM 152 low NM HC, FC, SH 46, XY C p.Q77X
c.838delA
Fu et al. [4] Chinese 11 typical P50th (4 years) NM NM NM HC, FC 46, XY H p.K236Tfs∗47
Park et al. [23] Korean twins 1.3 typical P3-10th (14 months) NM NM NM HC, FC 46, XX C p.R182C
p.Q258X
Korean twins < 1 typical P10-25th (14 months) NM NM NM HC, FC 46, XX C p.R182C
p.Q258X
Our case Chinese 2 typical P25-50th (18 months)
P25th (4.2 years)
154 similar NM HC, FC, SH 46, XY C p.Q77X
p.Q258X

HC Hydrocortisone, FC Fludrocortisone, SH Sex hormone, CT Computed tomography, AI Adrenal insufficiency, GD Gonadal dysplasia, BA Bone age, NM No mention, H Homozygote, C Compound heterozygote, E Estradiol