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

Table 3.

Data of two CLAH cases with small-size adrenals due to StAR gene mutation

Author Ethnicity Rearing gender Consanguineous parents Age at onset (month) Manifestations Adrenal imaging by CT Treatment Karyotype Alleles Mutation area Gene mutation Type of mutation
Bose et al. [20] Guatemalan/Amerindian Female Yes 2 typical The left adrenal gland was not seen, the right one was small HC, FC 46, XY H Exon 6 c.InsA677 Frameshift
Our case Chinese/Asian Female No 2 typical Both were small HC, FC 46, XY (big Y) C Exon 3
Exon 5
c. 229C>T
c. 722C>T
Nonsense

HC Hydrocortisone, FC Fludrocortisone, CT Computed tomography, H Homozygote, C Compound heterozygote