Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyophysenhormonmangel Typ 2

Der Panhypopituitarismus, der nun als kombinierter Hyophysenhormonmangel vom Typ 2 eingeordnet wurde, ist eine autosomal rezessive Erkrankung, die durch Mutationen im PROP1-Gen hervorgerufen wird. Klinisch stehen die Symptome der fehlenden Hypophysenhormone im Vordergrund. Dabei sind insbesondere der Kleinwuchs und der Hypogonadismus auffällig.

Gliederung

Kombinierter Hypophysenhormon-Mangel
Hyophysenhormonmangel Typ 1
Hyophysenhormonmangel Typ 2
PROP1
Hyophysenhormonmangel Typ 3
Hyophysenhormonmangel Typ 4
Hyophysenhormonmangel Typ 5

Referenzen:

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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