Table 1.

Clinical Details of the Members of the Kindred

Patient	Sex	Age, y	Age at Diagnosis, y	Mode of Presentation	Relevant Clinical History	Degree of Pigmentation at Presentation	9:00 am Cortisol, nmol/L	9:00 am ACTH, ng/L	Maximum Cortisol With ACTH Stimulation, nmol/L	Echo
1.1	F	33.8	10.8	Hyperpigmentation	Asymptomatic until diagnosis	Moderate	<10	160	Not done	Normal
1.2	F	27.1	4.5	Hyperpigmentation	Asymptomatic until diagnosis	Severe	<25	500	<25	Trivial TR and MR
2.1	M	13.9	2.9	Screening	Mild neonatal jaundice	None	65	8130	61	Normal
2.2	F	9.5	6.9	Screening	Asymptomatic	Mild	158	514	33	Normal
2.3	F	8.6	0.1	Screening	Asymptomatic	Severe	28	3249	147	Normal
2.4	F	7.4		Currently well	Asymptomatic	None	262a	23.2a	1052a	Normal
2.5	M	2.1	0.1	Poor feeding	Heart failure secondary to cardiac defect	Mild	46	>1240	190	Truncus arteriosus and VSD

Abbreviations: Echo, echocardiogram; F, female; M, male; MR, mitral regurgitation; TR, tricuspid regurgitation; VSD, ventricular septal defect. The 9:00 am cortisol normal range is 200–600 nmol/L, 9:00 am ACTH normal range is less than 50 ng/L. The maximum cortisol with ACTH stimulation normal is greater than 550 nmol/L. Biochemical data are at time of diagnosis.

^aMost recent levels.