Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pituitary hormone deficiency type 2

Panhypopituitarism, now classified as combined pituitary hormone deficiency-2, is an autosomal recessive disorder caused by mutations of the PROP1 gene. The disease is characterized by symptoms caused by pituitary hormone deficiencies. Most obvious among them are dwarfism and hypogonadism.

Systematic

Combined pituitary hormone deficiency
Pituitary hormone deficiency type 1
Pituitary hormone deficiency type 2
PROP1
Pituitary hormone deficiency type 3
Pituitary hormone deficiency type 4
Pituitary hormone deficiency type 5

References:

1.

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

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2.

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

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3.

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

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4.

Fofanova O et al. (1998) Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency.

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5.

Cogan JD et al. (1998) The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.

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6.

Flück C et al. (1998) Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).

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7.

Rosenbloom AL et al. (1999) Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene.

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8.

Mendonca BB et al. (1999) Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.

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9.

Pernasetti F et al. (2000) Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.

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10.

Agarwal G et al. (2000) Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.

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11.

Riepe FG et al. (2001) Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.

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12.

Vallette-Kasic S et al. (2001) PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.

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13.

Lee JK et al. (2004) Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation.

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14.

Böttner A et al. (2004) PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.

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15.

Reynaud R et al. (2004) A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

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16.

Steiner MM et al. (1965) Absence of pituitary gland, hypothyroidism, hypoadrenalism and hypogonadism in a 17-year-old dwarf.

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17.

None (1969) Congenital absence of hypoplasia of the endocrine glands.

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18.

Rosenfield RL et al. (1967) Idiopathic anterior hypopituitarism in one of monozygous twins.

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19.

Pinto G et al. (1997) Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis.

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20.

Sadeghi-Nejad A et al. (1974) A familial syndrome of isolated "aplasia" of the anterior pituitary. Diagnostic studies and treatment in the neonatal period.

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21.

None (1953) [The role of hereditary factors in growth disorders].

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22.

KIRCHHOFF HW et al. (1954) [Clinical, hereditary and constitutional studies of primordial dwarfs].

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23.

None (1964) STUDIES IN ISOLATES.

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24.

Voutetakis A et al. (2004) Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe.

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25.

OMIM.ORG article

Omim 262600 [^]
26.

Orphanet article

Orphanet ID 90695 [^]
27.

Wikipedia article

Wikipedia EN (Hypopituitarism) [^]
Update: April 29, 2019