Table 1.

Clinical and biochemical data on all six patients with homozygous MC2R nonsense and frameshift mutations

Family		I	II		III	IV
Patient number		1	1	2	1	1	2
MC2R mutation		c.459–460insC	c.634delA	c.634delA	c.702delC	c.539C >	c.539C > A
		(p.I154fsX248)	(p.R212fsX215)	(p.R212fsX215)	(p.F235fsX241)	A (p.S180X)	(p.S180X)
Sex		M	F	M	M	M	F
Age of first S/D		3 days/7 months	10 days/1 month	16 months	7 weeks	2 days/4 weeks	6 days
Age at Last F		10·8 years	4·8 years	2·7 years	1 year	15 years	12 years
Presentation		Neonatal hepatitis, hyperpigmentation, prolonged jaundice	Hypoglycaemic seizures, sepsis	Hypoglycaemic seizures	Hypoglycaemia, hyperpigmentation, prolonged jaundice, FTT	Hypoglycaemic seizures, hyperpigmentation	Hypoglycaemic seizures Hyperpigmentation,
Cortisol (nmol/l)	D	< 30	< 30	< 30	< 30	< 30	< 30
(N.R. 120–620)
ACTH (pg/ml)	D	639	–	> 1250	> 1250	> 3000	> 3000
(N.R. < 50)	F	7790	< 5†	< 6†	NA	NA	–
Aldosterone (pmol/l)	D	100‡	470	320	NA	NA	939
	F	< 70	190	650	70/290	NA	103
N.R.		100–450	100–440	83–840	300–2200	NA	83–941
Plasma renin/plasma	D	4·5 pmol/ml/h‡	433 µU/ml	63 µU/ml	NA	NA	> 19 pmol/ml/h
renin activity	F	6·7 pmol/ml/h	68·7 µU/ml	80·2 µU/ml	3·5 pmol/ml/h, 5·6 pmol/ml/h	0·6–9·1 pmol/ml/h	12·8 ng/l (7·4–56·2)§
N.R.		2·8–4·5	3·9–49·3	3·3–41	1·3–8·6	1·2–5·3	1·2–5·3
UE at D and F		Na +132 at D, Normal at F	Normal	Normal	Normal	Normal	Normal
Treatment (mg/m2/day)		HC 10·2	HC 19·5	HC 23·4	HC 20	HC 12·9	HC 14·5

SI conversion: Aldosterone, pmol/l = 27·7 ng/dL, PRA, pmol/h/ml = 0·77 ng/h/ml, was used where appropriate. D, at diagnosis; HC, hydrocortisone; UE, urea and electrolytes; S, symptoms; FTT, failure to thrive; F, follow-up; NR, normal range; NA, results not available.

^†Suppression of ACTH on high doses of HC.

^‡Results taken age 5·9 years (date of FGD diagnosis). Abnormal renin/aldosterone results in bold.

^§Corresponding NR in ng/l.