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Isolated growth hormone deficiency type 1A

Isolated growth hormone deficiency type 1A is an autosomal recessive disorder caused severe mutations, large deletions for instance. Growth retardation and delayed bone maturation. Patient often develop antibodies when substituted by growth hormone.

Systematic

Growth hormone deficiency
GH1
Growth hormone secretagogue resistance
Isolated growth hormone deficiency type 1A
GH1
Isolated growth hormone deficiency type 1B
Isolated growth hormone deficiency type 2
Isolated growth hormone deficiency type 3
Kowarski syndrome

References:

1.

None (1997) Is growth hormone deficiency a viable diagnosis?

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2.

Leisti J et al. (1973) Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18.

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3.

None (1968) Hypopituitary dwarfism. The importance of early therapy.

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4.

None (1970) Growth hormone antibodies in patients treated with different preparations of human growth hormone (HGH).

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5.

Seip M et al. (1968) Hereditary pituitary dwarfism with spontaneous puberty.

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6.

Phillips JA et al. (1981) Molecular basis for familial isolated growth hormone deficiency.

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7.

Palmiter RD et al. (1982) Dramatic growth of mice that develop from eggs microinjected with metallothionein-growth hormone fusion genes.

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8.

Donaldson MD et al. (1980) Recessively inherited growth hormone deficiency in a family from Iraq.

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9.

Zachmann M et al. (1980) Anthropometric measurements in patients with growth hormone deficiency before treatment with human growth hormone.

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10.

Archer JS et al. (1994) Human growth hormone (hGH) secretion in milk of goats after direct transfer of the hGH gene into the mammary gland by using replication-defective retrovirus vectors.

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11.

Rona RJ et al. (1977) Aetiology of idiopathic growth hormone deficiency in England and Wales.

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12.

Osorio MG et al. (2002) Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

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13.

Blethen SL et al. (1997) Adult height in growth hormone (GH)-deficient children treated with biosynthetic GH. The Genentech Growth Study Group.

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14.

Rappaport R et al. (1997) A 5-year prospective study of growth hormone (GH)-deficient children treated with GH before the age of 3 years. French Serono Study Group.

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15.

Tillmann V et al. (1997) Biochemical tests in the diagnosis of childhood growth hormone deficiency.

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16.

de Boer H et al. (1997) Why retest young adults with childhood-onset growth hormone deficiency?

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17.

Tobiume H et al. (1997) Serum bone alkaline phosphatase isoenzyme levels in normal children and children with growth hormone (GH) deficiency: a potential marker for bone formation and response to GH therapy.

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18.

Chapman IM et al. (1997) Oral administration of growth hormone (GH) releasing peptide-mimetic MK-677 stimulates the GH/insulin-like growth factor-I axis in selected GH-deficient adults.

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19.

Cassorla F et al. (1997) Effects of luteinizing hormone-releasing hormone analog-induced pubertal delay in growth hormone (GH)-deficient children treated with GH: preliminary results.

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20.

Cuneo RC et al. (1998) The Australian Multicenter Trial of Growth Hormone (GH) Treatment in GH-Deficient Adults.

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21.

Mericq V et al. (1998) Effects of eight months treatment with graded doses of a growth hormone (GH)-releasing peptide in GH-deficient children.

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22.

Laron Z et al. (1985) Human growth hormone gene deletion without antibody formation or growth arrest during treatment--a new disease entity?

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23.

Aguiar-Oliveira MH et al. (1999) Effect of severe growth hormone (GH) deficiency due to a mutation in the GH-releasing hormone receptor on insulin-like growth factors (IGFs), IGF-binding proteins, and ternary complex formation throughout life.

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24.

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

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25.

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

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26.

Mullis PE et al. (1992) Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations.

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27.

Phillips JA et al. (1994) Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency.

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28.

Maghnie M et al. (1999) Growth hormone (GH) deficiency (GHD) of childhood onset: reassessment of GH status and evaluation of the predictive criteria for permanent GHD in young adults.

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29.

Nishi Y et al. (1999) Recent status in the occurrence of leukemia in growth hormone-treated patients in Japan. GH Treatment Study Committee of the Foundation for Growth Science, Japan.

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30.

Chen S et al. (1999) Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function.

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31.

None (1999) Four decades of growth hormone therapy for short children: what have we achieved?

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32.

Mahajan T et al. (2000) A simple test for growth hormone deficiency in adults.

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33.

Martínez AS et al. (2000) Estrogen priming effect on growth hormone (GH) provocative test: a useful tool for the diagnosis of GH deficiency.

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34.

Merimee TJ et al. (1975) Clinical and pathological studies in a growth hormone-deficient dwarf.

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35.

Pena-Almazan S et al. (2001) Linear growth characteristics of congenitally GH-deficient infants from birth to one year of age.

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36.

Besson A et al. (2003) Reduced longevity in untreated patients with isolated growth hormone deficiency.

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37.

Shulman DI et al. (2003) Effects of one year of recombinant human growth hormone (GH) therapy on cardiac mass and function in children with classical GH deficiency.

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38.

CARSNER RL et al. (1960) Primary site of gene action in anterior pituitary dwarf mice.

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39.

None (1955) Primordial dwarfism and ectopia lentis.

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40.

Colao A et al. (2005) Common carotid intima-media thickness in growth hormone (GH)-deficient adolescents: a prospective study after GH withdrawal and restarting GH replacement.

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41.

Hernández LM et al. (2007) Isolated growth hormone deficiency.

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42.

Rimoin DL et al. (1966) Growth-hormone deficiency in man: an isolated, recessively inherited defect.

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43.

OMIM.ORG article

Omim 262400 external link
44.

Wikipedia article

Wikipedia EN (Primordial_dwarfism) external link
Update: Aug. 14, 2020
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