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 |