ALDOSTERONE AS KEY PLAYER
|
PRIMARY ALDOSTERONISM (PA)
|
Familial hyperaldosteronism (FH) type I (glucocorticoid-remediable aldosteronism) |
AD |
Hybrid CYP11B1/CYP11B2
|
Early on set PA, family history of strokes in young age |
↓ |
↓ |
↑ |
→ |
→ |
FH type II |
AD |
CLCN2
|
Early onset HT, BAH |
↓ |
↓ |
↑ |
→ |
→ |
FH type III |
AD |
KCNJ5
|
Early onset familial PA |
↓ |
↓ |
↑ |
→ |
→ |
FH type IV |
AD |
CACNA1H
|
Early onset familial PA |
↓ |
↓ |
↑ |
→ |
→ |
Primary aldosteronism with seizures and neurologic abnormalities (PASNA) (type V?) |
AD |
CACNA1D
|
Early onset familial PA, seizures |
↓ |
↓ |
↑ |
→ |
→ |
DEOXYCORTICOSTERONE (DOC) AS KEY PLAYER
|
CONGENITAL ADRENAL HYPERPLASIA
|
Deficiency of 11-β-hydroxylase |
AR |
CYP11B1
|
46XX DSD, precocious pubarche boys, HT |
↓ |
↓ |
↓ |
↑ |
↓ |
Deficiency of 17-α-hydroxylase |
AR |
CYP17A1
|
46XY DSD, sexual infantilism in glirs, HT |
↓ |
↓ |
↓ |
↑ |
↓ |
Chrousos syndrome (generalized glucocorticoid resistance) |
AD |
NR3C1
|
HT, hyperandrogenism, pseudoprecocious puberty, hypoglcemia |
↓ |
→ ↓ |
→ ↓ |
↑ |
|
DOC-producing tumor |
|
|
No cases in pediatric population |
↓ |
↓ |
↓ |
↑ |
→ |
CORTISOL AS KEY PLAYER
|
CUSHING SYNDROME
|
Cortisol-producing adrenal tumor |
|
|
|
↓ |
→ ↓ |
→ ↓ |
→ |
↑ |
Adrenocortical carcinoma |
AD |
TP53
|
|
↓ |
→ ↓ |
→ ↓ |
→ |
↑ |
AIMAH |
Smu |
GNAS1
|
Cushing |
↓ |
→ ↓ |
→ ↓ |
→ |
↑ |
|
AD, Smu |
ARMC5
|
|
↓ |
→ ↓ |
→ ↓ |
→ |
↑ |
ACTH-secreting pituitary adenoma |
? |
USP8
|
|
↓ |
→ ↓ |
→ ↓ |
↑ |
Carney complex/syndrome (type I) |
AD |
PRKAR1A
|
|
↓ |
→ ↓ |
→ ↓ |
→ |
↑ |
PPNAD1 |
AD |
PRKAR1A
|
Skin pigmentation, myxomas, pituitary tumor |
↓ |
→ ↓ |
→ ↓ |
→ |
↑ |
PPNAD2 |
AD |
PDE11A(A1-3)
|
|
↓ |
→ ↓ |
→ ↓ |
→ |
↑ |
PPNAD3 |
AD |
PDE8B
|
|
↓ |
→ ↓ |
→ ↓ |
→ |
↑ |
PPNAD4 |
AD |
PRKACA
|
|
↓ |
→ ↓ |
→ ↓ |
→ |
↑ |
McCune-Albright syndrome |
|
GNAS
|
Fibrous dysplasia, café-aut lait pigmentation pseudoprecocious puberty |
|
|
|
|
|
AME - Apparent Mineralocorticoid Excess Sd. |
AR |
HSD11B2 |
Low birth weight, failure to thrive, polyuria, polydipsia, muscle weakness |
↓ |
↓ |
↓ |
→ |
→ |
SYNDROMES OF INAPPROPRIATE SALT RETENTION
|
Geller syndrome |
AD |
NR3C2
|
Early onset HT exacerbated by pregnancy |
↓ |
↓ |
↓ |
→ |
→ |
Liddle syndrome (type I) |
AD |
SCNN1B
|
|
↓ |
↓ |
→ |
→ |
Liddle syndrome (type II) |
AD |
SCNN1G
|
Early onset severe HT, metabolic alcalosis |
↓ |
↓ |
↓ |
→ |
→ |
Liddle syndrome (type III) |
AD |
SCNN1A
|
|
↓ |
↓ |
↓ |
→ |
→ |
Gordon syndrome |
AD |
|
|
↓ |
|
→ ↓ |
→ |
→ |
(pseudohypoaldosteronism type II) |
AD |
WNK4
|
|
↓ |
|
→ ↓ |
→ |
→ |
|
AD |
WNK1
|
Short stature, hyperkalemic and hyperchloremic metabolic acidosis |
↓ |
|
→ ↓ |
→ |
→ |
|
AR or AD |
KLHL3
|
|
↓ |
|
→ ↓ |
→ |
→ |
|
AD |
CUL3
|
|
↓ |
|
→ ↓ |
→ |
→ |
CATECHOLAMINES AS KEY PLAYERS
|
Familial pheochromocytoma |
AD |
KIF1B
|
|
→ |
→ |
→ |
→ |
→ |
|
AD |
SDHB
|
|
|
|
|
|
|
|
AD |
TMEM127
|
|
|
|
|
|
|
|
AD |
VHL
|
HT, palpitations, headache, sweating, abdominal mass, incidental finding, family screening |
|
|
|
|
|
|
AD |
GDNF
|
|
|
|
|
|
|
|
AD |
RET
|
|
|
|
|
|
|
|
AD |
SDHD
|
|
|
|
|
|
|
|
AD |
MAX
|
|
|
|
|
|
|
BLOOD VESSELS AS KEY PLAYERS
|
Bilginturan syndrome (hypertension and brachydactily syndrome) |
AD |
PDE3A
|
Early onset HT, short stature Brachydactyly |
→ |
→ |
→ |
→ |
→ |