A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty

Clinical Endocrinology

Volumn 57, Issue 2, 2002, Pages 283-291

  Arroyo, Armando ^a   Pernasetti, Flavia ^a   Vasilyev, Vyacheslav V ^a   Amato, Paula ^a   Yen, Samuel S C ^a   Mellon, Pamela L ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b University of California San Diego   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTINE; ESTROGEN; FOLLITROPIN; GROWTH HORMONE; HOMEODOMAIN PROTEIN; HYPOPHYSIS HORMONE; LUTEINIZING HORMONE; PROLACTIN; THYROTROPIN; TRANSCRIPTION FACTOR PIT 1;

ABSORPTIOMETRY; ADENOHYPOPHYSIS; ADIPOSE TISSUE; ADULT; ARTICLE; BASE PAIRING; BODY FAT; CASE REPORT; CHILDHOOD; CLINICAL FEATURE; DNA HELIX; EPIPHYSIS PLATE; FEMALE; GENE; GENE MUTATION; GROWTH ACCELERATION; HEIGHT; HOMOZYGOSITY; HORMONE BLOOD LEVEL; HORMONE DEFICIENCY; HUMAN; HYPOPHYSIS; HYPOPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; OBESITY; PHENOTYPE; PREPUBERTY; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PROP1 GENE; PROVOCATION TEST; PUBERTY;

ADULT; AMENORRHEA; BODY HEIGHT; FEMALE; GROWTH HORMONE; HOMEODOMAIN PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; PITUITARY DISEASES; POINT MUTATION;

EID: 0036360499     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2002.01550.x     Document Type: Article

References (40)

1. Structure and function of the type 1 insulin-like growth factor receptor
2. Body mass index in growth hormone deficient children before and during growth hormone treatment
3. Factors predicting the response to growth hormone (GH) therapy in prepubertal children with GH deficiency
4. Aromatase in aging women
5. Central precocious puberty: Clinical and laboratory features
6. The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
7. Race-and sex-specific reference data for triceps and subscapular skinfolds and weight/stature2
8. 'Hot spot' in the PROP1 gene responsible for combined pituitary hormone deficiency
9. Human Prop-1: Cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency
10. Phenotypic variablity in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitutions of Arg-Cys at codon 120 (R120C)
11. Compound heterozygous deletion of the PROP1 gene in children with combined pituitary hormone deficiency
12. A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency
13. Standardized percentile curves of body-mass index for children and adolescents
14. The influence of gonadal function and the effect of gonadal suppression treatment on final height in growth hormone (GH)-treated GH-deficient children
15. Growth pattern and age at menarche of obese girls in a transitional society
16. The 'Little People' of the Island of Krk-revisited etiology of hypopituitarism revealed
17. Centers for disease control (CDC) growth charts: United States
18. Overexpression of insulin-like growth factor-1 attenuates the myocyte renin-angiotensin system in transgenic mice
19. Pediatric endocrinology update: An overview. The essential roles of estrogens in pubertal growth, epiphyseal fusion and bone turnover: Lessons from mutations in the genes for aromatase and the estrogen receptor
20. Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301, G302 in the PROP1 gene
21. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens
22. Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene
23. Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1
24. Heritable disorders of pituitary development
25. 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
26. Insulin-like growth factor I-mediated activation of the transcription factor cAMP response element-binding protein in PC12 cells. Involvement of p38 mitogen-activated protein kinase-mediated pathway
27. Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene
28. Growth hormone (GH) insensitivity due to primary GH receptor deficiency
29. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man
30. Longitudinal anthropometric measurements in patients with growth hormone deficiency. Effect of human growth hormone treatment
31. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism
32. Height of normal pituitary gland on MR imaging: Age and sex differentiation
33. The effect of pubertal delay on adult height in men with isolated hypogonadotropic hypogonadism
34. Chelex100 as a medium for simple extraction of DNA for PCR-based typing from forensic material
35. Use and interpretation of anthropometric indicators of nutritional status
36. Mutations in PROP1 cause familial combined pituitary hormone deficiency