GH deficiency might be associated with normal height in PROP1 deficiency

Clinical Endocrinology

Volumn 57, Issue 2, 2002, Pages 157-158

  Dattani, Mehul T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GONADOTROPIN; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR; PROLACTIN; THYROTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PIT 1; TRANSCRIPTION FACTOR PROP1; UNCLASSIFIED DRUG;

ADENOHYPOPHYSIS; CRANIOPHARYNGIOMA; DWARFISM; DYSPLASIA; GENE DELETION; GROWTH; GROWTH HORMONE DEFICIENCY; HEIGHT; HUMAN; HYPERINSULINEMIA; HYPOPHYSIS ADRENAL SYSTEM; HYPOTHALAMUS TUMOR; MISSENSE MUTATION; NONHUMAN; NOTE; NUCLEIC ACID BASE SUBSTITUTION; OBESITY; PHENOTYPIC VARIATION; PRIORITY JOURNAL;

BODY HEIGHT; GROWTH HORMONE; HOMEODOMAIN PROTEINS; HUMANS; INSULIN; OBESITY;

EID: 0036373893     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2002.01554.x     Document Type: Note

References (15)

1. Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion
2. A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty
3. Insulin-like growth factors 1 and 11, prolactin, and insulin in 19 growth hormone-deficient children with excessive, normal, or decreased longitudinal growth after operation for craniopharyngioma
4. The molecular basis for developmental disorders of the pituitary gland in man
5. 'Hot spot' in the PROP1 gene responsible for combined pituitary hormone deficiency
6. Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitutions of Arg-Cys at codon 120 (R120C)
7. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene Pit-1
8. Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301, G302 in the PROP1 gene
9. Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the Prophet of Pit1 gene
10. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia
11. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency
12. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism
13. PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency
14. Mutations in PROP1 cause familial combined pituitary hormone deficiency