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Table 3 Data of two CLAH cases with small-size adrenals due to StAR gene mutation

From: Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a 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

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