Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation

BMC Endocrine Disorders

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
Khoury et al. [24]	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
Fluck et al. [25]	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
Park et al. [23]	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

ISSN: 1472-6823