Table 1.
Patient characteristics
|
Pat |
Sex |
Genetic screening |
Further genetic tests |
Lack of |
Pituitary gland in MRI-scan |
Special aspects |
Symptoms leading to diagnosis |
Age of diagnosis |
Family history |
|||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GH | TSH | LH/FSH | ACTH | |||||||||
|
1 |
m |
PIT1, PROP1, HESX1, LHX3 |
/ |
+ |
+ |
+ |
+ |
hypoplastic |
/ |
growth retardation and hypopituitarism |
childhood/adolesence |
no |
|
2 |
m |
PIT1, PROP1, HESX1, LHX3 |
SOX2, OTX2 |
+ |
+ |
+ |
+ |
hypoplastic |
midline defect, right anophthalmia, mental retardation |
severe malformations |
birth |
no |
|
3 |
f |
PIT1, PROP1, HESX1, LHX3 |
/ |
+ |
+ |
+ |
+ |
hypoplastic |
brain atrophy |
growth retardation |
childhood/adolesence |
no |
|
4 |
f |
PIT1, PROP1, HESX-1 |
/ |
+ |
+ |
no |
no |
hypoplastic |
/ |
growth retardation |
childhood/adolesence |
no |
|
5 |
m |
PIT1, PROP1, HESX-1, LHX3 |
LHX4 |
+ |
+ |
+ |
+ |
hypoplastic |
sclerosed nodules at the hands, short metacarpalia IV, azoospermia, |
growth retardation |
childhood/adolesence |
no |
|
6 |
m |
PIT1, PROP1, HESX1, LHX3 |
LHX4 |
+ |
+ |
no |
+ |
n.a. |
/ |
unknown |
||
|
7 |
f |
PIT1, PROP1, HESX1, LHX3 |
/ |
+ |
+ |
no |
+ |
small and ectopic neuropituitary gland |
left optic atrophy |
growth retardation, postpartal hypoglycaemia |
childhood/adolesence |
no |
|
8 |
m |
PIT1, PROP1, HESX1, LHX3 |
GLI2 |
+ |
+ |
no |
+ |
small pituitary and ectopic neuropituitary gland |
/ |
unknown |
unknown |
no |
|
9 |
m |
PIT1, PROP1, HESX1, LHX3 |
/ |
no |
+ |
no |
+ |
ectopic adeno- and neuropituitary gland |
/ |
prolonged jaundice, hypothyroidism |
early infancy |
no |
|
10 |
f |
PIT1, PROP1, HESX1, LHX3 |
/ |
+ |
+ |
+ |
+ |
hypoplastic |
/ |
hypoglycaemia, hypothyroidism |
early infancy |
no |
|
11 |
m |
PIT1, PROP1 |
LHX4, GLI2 |
+ |
no |
+ |
+ |
n.a. |
Asperger syndrome |
unknown |
||
|
12 |
m |
PIT1, PROP1, HESX1, LHX3 |
/ |
+ |
+ |
+ |
+ |
n.a. |
/ |
growth retardation, puperty onset at the age of 18, hypogonadism |
childhood/adolesence |
yes |
|
13 |
m |
PIT1, PROP1, HESX1, LHX3 |
/ |
+ |
+ |
no |
+ |
n.a. |
/ |
unknown |
||
|
14 |
m |
PIT1, PROP1, HESX1, LHX3 |
/ |
+ |
+ |
+ |
+ |
hypoplastic |
/ |
pericardial effusion |
adulthood |
yes |
|
15 |
m |
PIT1, PROP1, HESX1, LHX3 |
/ |
+ |
+ |
no |
+ |
normal size, but ectopic neuropituitary gland |
/ |
prolonged jaundice, hypoglycaemia, micropenis, muscular hypotonia, hypothyroidism |
early infancy |
no |
|
16 |
f |
PIT1, PROP1, HESX1, LHX3 |
LHX4 |
+ |
+ |
+ |
+ |
hypoplastic |
/ |
hypoglycaemia, hyponatraemia, hepatopathy, muscular hypotonia |
3rd day of life |
n.a. |
|
17 |
m |
PIT1, PROP1, HESX1, LHX3 |
GLI2, SHH |
+ |
+ |
+ |
+ |
hypoplastic |
/ |
complex facial malformations |
childhood/adolesence |
no |
|
18 |
m |
PIT1, PROP1, HESX1, LHX3 |
/ |
+ |
+ |
+ |
+ |
small and ectopic neuropituitary gland |
arachnodactyly, pulmonalisectasia, cryptorchidism, scoliosis |
unknown |
||
| 19 | f | PIT1, PROP1, HESX1, LHX3 | / | + | + | no | + | hypoplastic | / | growth retardation | childhood/adolesence | no |
m = male; f = female; MRI-scan = magnetic resonance imaging; MPHD = screening for PIT1, PROP1, HESX1, LHX3; PIT1 = POU domain, class 1, transcription factor 1; PROP1 = Homeobox protein prophet of Pit-1; HesX-1 = HESX homeobox 1; SOX2 = SRY (sex determining region Y)-box 2; OTX2 = SRY (sex determining region Y)-box 2 ; LHX4 = LIM/homeobox protein Lhx4; GLI2 = Zinc finger protein GLI2; SHH = Sonic hedgehog homolog; GH = growth hormone; TSH = thyroid stimulating hormone; LH = luteinizing hormone; FSH = follicle stimulating hormone; ACTH = adrenocorticotropic hormone; n.a. = not available.