Table 2.3.1.2
Clinical features of hypopituitarism due to mutations in PROP1, POU1F1, LHX3, and LHX4
PROP1POU1F1LHX3LHX4

Growth hormone

Deficient

Deficient

Deficient

Deficient

Thyroid-stimulating hormone

Deficient

Deficient

Deficient

Deficient

Prolactin

Deficient

Deficient

Deficient

Normal

Luteinizing hormone/follicle-stimulating hormone

Deficient

Normal

Deficient

Normal

Adrenocorticotropic hormone

May evolve

Normal

Normal/Deficient

Deficient

Pituitary

APH, N, E

APH, N

APH, N, E

APH, EPP

Other

Short cervical spine, sensorineural deafness

Cerebellar abnormalities

PROP1POU1F1LHX3LHX4

Growth hormone

Deficient

Deficient

Deficient

Deficient

Thyroid-stimulating hormone

Deficient

Deficient

Deficient

Deficient

Prolactin

Deficient

Deficient

Deficient

Normal

Luteinizing hormone/follicle-stimulating hormone

Deficient

Normal

Deficient

Normal

Adrenocorticotropic hormone

May evolve

Normal

Normal/Deficient

Deficient

Pituitary

APH, N, E

APH, N

APH, N, E

APH, EPP

Other

Short cervical spine, sensorineural deafness

Cerebellar abnormalities

APH, anterior pituitary hypoplasia; E, enlarged; EPP, ectopic posterior pituitary; N, normal.

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