Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pituitary hormone deficiency type 1

Combined Pituitary hormone deficiency type 1 is an autosomal recessive or dominant disorder caused by mutations of the POU1F1 gene. The disease is characterized by symptoms caused by pituitary hormone deficiencies.

Systematic

Combined pituitary hormone deficiency
Pituitary hormone deficiency type 1
POU1F1
Pituitary hormone deficiency type 2
Pituitary hormone deficiency type 3
Pituitary hormone deficiency type 4
Pituitary hormone deficiency type 5

References:

1.

None (2005) Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?

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2.

Rogol AD et al. (1976) Congenital hypothyroidism in a young man with growth hormone, thyrotropin, and prolactin deficiencies.

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3.

Tatsumi K et al. (1992) Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.

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4.

Ohta K et al. (1992) Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.

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5.

Radovick S et al. (1992) A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.

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6.

Pfäffle RW et al. (1992) Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.

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7.

Wit JM et al. (1989) Total deficiency of growth hormone and prolactin, and partial deficiency of thyroid stimulating hormone in two Dutch families: a new variant of hereditary pituitary deficiency.

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8.

McArthur RG et al. (1985) The natural history of familial hypopituitarism.

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9.

McKusick VA et al. (1967) General Tom Thumb and other midgets.

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10.

de Zegher F et al. (1995) The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency.

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11.

Irie Y et al. (1995) A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency.

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12.

Okamoto N et al. (1994) Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.

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13.

Pellegrini-Bouiller I et al. (1996) A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.

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14.

Aarskog D et al. (1997) Pituitary dwarfism in the R271W Pit-1 gene mutation.

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15.

Pernasetti F et al. (1998) Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.

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16.

Vallette-Kasic S et al. (2001) Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates.

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17.

Hendriks-Stegeman BI et al. (2001) Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.

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18.

Hashimoto Y et al. (2003) A novel nonsense mutation in the Pit-1 gene: evidence for a gene dosage effect.

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19.

Turton JP et al. (2005) Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

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20.

Miyata I et al. (2006) Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

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21.

Sloop KW et al. (2000) Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.

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22.

Wu W et al. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency.

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23.

Voss JW et al. (1992) Anterior pituitary development: short tales from dwarf mice.

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24.

OMIM.ORG article

Omim 613038 [^]
Update: April 29, 2019