Table 2 Recent cases of ACH described in literature: main clinical and genetic characteristics

Evliyaoglu O, 2013 [11]

33 days

↓Na,↑K, ↓aldosterone, ↑renin, ↑ACTH, ↓cortisol

Both parents normal

c.543delA

Abraham MB, 2016 [12]

5 years

5 years

↓Na,↑K, ↓aldosterone, ↑ACTH, ↓cortisol

Mother as a carrier

c.844C > T

Wheeler B, 2008 [13] case 1

6 weeks

6 weeks

↓Na,↑K, aldosterone N, ↑renin, ↑ACTH, ↓cortisol

Nucleotide transversion c.192C > A, c.498G > A

Wheeler B, 2008 [13] case 2

18 months

24 months (primary adrenal insufficiency), 16.5 years (AHC with DAX1 mutation)

↓Na,K n, aldosterone undectable, ↑renin, ↓cortisol

51 bp deletion nt1068–1118

Wheeler B, 2008 [13] case 3

1 years

4 years (primary adrenal insufficiency), 25 years (AHC with DAX1 mutation)

↓Na,↑K, ↓cortisol response to ACTH test, ↑ACTH

8 bp deletion nt 1181–1188

Verrijn Stuart AA, 2007 [15]

4 weeks

4 weeks misdiagnosed as CAH, 11 years diagnosis of AHC

↓Na,↑K, ACTH n, cortisol n

Mother as a carrier

W105C TGG➔TGC (missense mutation in the amino-terminal region

Calliari LE, 2013 [16]

8 years

Na n,K n, ↓ aldosterone, ↓cortisol

2 younger brothers

Transition C➔Tand stop codon at 359 (Q359X)

Zhang Z, 2015 [17] case 1

9 years

9 years diagnosis of primary adrenal insufficiency, > 23 years diagnosis of AHC

Na n,K n, ↑ ACTH, ↓cortisol

Mother as a carrier, brother affected

c.1268delA

Zhang Z, 2015 [17] case 2

8 years

8 years diagnosis of primary adrenal insufficiency, 23 years diagnosis of AHC

Na n,K n, ↑ ACTH, ↓cortisol, ↑aldosterone, ↑renin

Mother as a carrier, brother affected

c.1268delA

Ahmad I, 2007 [18]

2.2 years

↓Na, ↑K, ↑ ACTH, ↓cortisol response to ACTH test, ↑renin

Maternal grandmother and mother as carriers, one maternal uncle affected, two maternal uncles died probably affected

T265R

Chung ST, 2015 [19]

2 weeks

4 months

↓Na, ↑K, ↑ ACTH, ↓cortisol, ↑renin, aldosterone undetectable

Mother as a carrier

c.1094 T > C

Kyriakakis N, 2017 case 1 [20]

19 years

42 years

↓Na, K n, ↓cortisol, ↓aldosterone

c.775 T > C

Kyriakakis N, 2017 case 2 [20]

30 years

37 years

↓Na, K n, ↓cortisol at baseline and after ACTH test, ↓aldosterone

c.836C > T

Li N, 2017 case1 [21]

8 years

18 years

↑ ACTH, ↓cortisol, ↓aldosterone, ↑renin

Cousin affected

L262P

Li N, 2017 case 2 [21]

At birth

10 years

↑ ACTH, ↓cortisol, aldosterone n, ↑renin

Cousin affected

L262P

Li N, 2017 case 3 [21]

8 years

23 years

↑ ACTH, ↓cortisol, aldosterone n, renin undetermined

C368F

Li N, 2017 case 4 [21]

At birth

27 years

↑ ACTH, Na n, K n, cortisol n, ↓aldosterone, renin n

637delC

Li N, 2017 case 5 [21]

At birth

6 months

↑ ACTH, ↓cortisol, ↓aldosterone, ↑renin

652_653delAC

Li N, 2017 case 6 [21]

10 years

20 years

↑ ACTH, ↓cortisol, ↓aldosterone, ↑renin

973delC

Li N, 2017 case 7 [21]

2 years

15 years

ACTH n, ↓cortisol, ↓aldosterone, renin n

774_775insCC

Li N, 2017 case 8 [21]

5 years

17 years

↑ ACTH, ↓cortisol, aldosterone and renin undetermined

L278P

Li N, 2017 case 9 [21]

11 years

26 years

↑ ACTH, ↓cortisol, ↓aldosterone, renin n

Q222X

2.5 years

2.5 years

↓Na, ↑K, ↑ ACTH, ↓cortisol, aldosterone and renin undetermined

Mother as a carrier

c.870C > A

21 days

↓Na, ↑K, ↑ ACTH, cortisol n, aldosterone n, ↑renin

Mother as a carrier, two sisters affected

P353LfsX387

21 days

↓Na, ↑K, ↑ ACTH, cortisol n, aldosterone n, ↑renin

Mother as a carrier, two sisters affected

P353LfsX387

3 days

↓Na, K n, ↑ ACTH, cortisol ↓, aldosterone n, ↑renin

Mother as a carrier, two sisters affected

P353LfsX387

8 days

↓Na, K ↑, ↑ ACTH, cortisol ↑, ↑renin

Mother as a carrier, two sisters affected

P353LfsX387

18 days

18 months

↓Na, K ↑, ACTH n, cortisol n, aldosterone n, ↑renin

Case 1 and 2 are identical twins

p.471 L > X

9.5 years

9.5 years

↓Na, K ↑, ACTH ↑, cortisol ↓, aldosterone and renin undetermined

Case 1 and 2 are identical twins

p.471 L > X