Table 1.

A list of reported cases of POMC deficiency so far.

Patient	Nucleotide change	AA change	Ancestry	Gender	Age of first symptoms	First presenting symptoms/signs	Hair color	Other endocrine comorbidities	Reference
1	c.313G>T c.433delC	p.Glu105* p.Arg145fs	German	male	neonatal	hyperbilirubinemia	red	subclinical central hypothyroidism	(4)
2	c.-11C>A		German	female	12 months	hypoglycemia, hyponatremia	red	subclinical central hypothyroidism, GH deficiency, hypogonadism	(4, 7, 9)
3	c.-11C>A		Dutch	male	neonatal	hypoglycemia, convulsions, hyperbilirubinemia	red, but changed to brown at 2–3 years		(7)
4	c.-11C>A/c.403_404dupGG	p.Glu134fs	Swiss	female	6 months	hypoglycemia, convulsions	red		(7)
5	c.151A>T c.296delG	p.Lys51* p.Gly99fs	Slovenian	male	neonatal	hypoglycemia, convulsions	red	type 1 diabetes, GH deficiency, hypogonadism	(3, 7), this report
6	c.206delC	p.Pro69fs	Turkish	male	not specified	not specified	brown, but dark red roots		(10)
7	c.223dupC	p.Arg75fs	North African	female	4 weeks	hypoglycemia	brown	GH deficiency, hypogonadism, central hypothyroidism	(9, 11)
8	c.296delG	p.Gly99fs	Turkish	male	neonatal	hypoglycemia, apnea attacks	red	mineralocorticoid deficiency	(12)
9	c.231C>A	p.Tyr77*	Hispanic	female	9 months	hypoglycemia, hyponatremia	dark brown to black		(13)
10	c.256C>T	p.Arg86*	Indian	male	neonatal	respiratory distress, convulsions, hypoglycemia, hyponatremia	skin and hair lighter than expected	central hypothyroidism	(14)
11	c.202C>T	p.Gln68*	Egyptian	male	neonatal	hypoglycemia	dark brown to black		(15)
12	c.206delC	p.Pro69fs	Turkish	male	neonatal	convulsions, apnea	red, but brown later	central hypothyroidism	(16)
13	c.-11C>A c.433C>T	p.Arg145Cys	French-Canadian	female	4.3 years	hypoglycemia, hyponatremia	red	elevated bioinactive ACTH	(17)
14	c.433C>T	p.Arg145Cys	French-Canadian	male	4 months	hypoglycemia, convulsions, hyponatremia	red	elevated bioinactive ACTH	(17)
15	c.-11C>A		Scottish/German	male	neonatal	hypoglycemia, convulsions	red	type 1 diabetes	(18)
16	c.64delA	p.Met22fs	Turkish	female	neonatal	hyperbilirubinemia, hypoglycemia, convulsions	red		(19)
17	c.-11C>A c.251G>A	p.Trp84*	Russian	male	neonatal	hyperbilirubinemia, hypoglycemia	red	subclinical hypothyroidism	(20)
18	c.133-2A>C		Iraqi	female	neonatal	hyperbilirubinemia, frequent falls	light brown with a reddish hue	type 1 diabetes	(21)
19	c.133-2A>C		Iraqi	female	neonatal	hyperbilirubinemia	light brown with reddish hue		(21)
20	c.20_21ins25	p.Ser7fs	Hispanic	male	neonatal	hypoglycemia, hyperbilirubinemia, poor feeding	dark with a reddish tinge	central hypothyroidism	(22)
21	c.206delC	p.Pro69fs	Turkish	female	2.5 months	spasms, cyanosis, hypoglycemia, hyponatremia, elevated aspartate transaminase	red	no mini-puberty	(23)
22	c.296delG	p.Gly99fs	Slovenian	female	7 months	obesity, central hypothyroidism	brown	central hypothyroidism	this report

The reference numbers of POMC gene and POMC protein are NM_001035256.3 and NP_001030333.1, respectively.

AA, amino acid; GH, growth hormone; ACTH, corticotropin.