BMC Medical Genetics

Table 2 ACTH stimulation test among patient and family members

From: Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

	Father			Mother			S-1			S-2			S-3
	0’	30’	60’	0’	30’	60’	0’	30’	60’	0’	30’	60’	0’	30’	60’
Glucose	114			98			82			93			87
Na	142			140			142			141			142
K	4.2			4.6			3.9			5			4
ACTH	35			13.7			1.88			9.3			30
Cortisol (μg/dL)	10.8	24.8	28.3	6.7	9.8	18	5.6	4.7	8	9.2	16.2	18.3	9.4	32.2	33.3
17-OHP (ng/ml)	0.9	1.8	1.2	0.8	16.6	10.4	1.1	28	33	2.1	9.7	10.8	0.9	1.2	1.62

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ISSN: 1471-2350

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