Table 1.

Clinical Features and Molecular Data of Patients With AHC

Patient No.	Sex	Age of Onset	Clinical Features				Genotypes		Unusual Phenotypes
			P	H	SW	HH	DNA Mutation	Protein Change
I	M	1 mo	X	X	X	X	c.805_807delGTC	p.Val269del	—
II	M	2 d	X	X	X	N/A	c.805_807delGTC	p.Val269del	—
III	M	24 d	X	X	X	N/A	c.1148_1149delGG	p.Gly383Aspfs*5	—
IV	M	17 y	X	-	—	X	c.1156C>T	p.Leu386Phe	Late-onset Addison
V	M	1 mo	X	—	X	N/A	c.363delG	p.Gly122Valfs*142	Precocious puberty
VI	M	3.5 y	X	—	X	X	c.1062delC	p.Ala355Profs*17	—
VII	M	3 d	X	X	X	X	c.501_502insG	p.Ala170Argfs*15	Growth hormone deficiency

Novel mutations are indicated in bold.

Abbreviations: H, hypoglycemia; HH, hypogonadotropic hypogonadism; N/A, not applicable; P, hyperpigmentation; SW, salt-wasting.