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Table 1 Patient characteristics

From: Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency

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

  1. 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.