Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH

Clinical Endocrinology

Volumn 53, Issue 3, 2000, Pages 389-392

  Ishii, Tomohiro ^a,b   Ogata, Tsutomu ^a,b   Sasaki, Goro ^a,b   Sato, Seiji ^a,b   Kinoshita, Ei Ichi ^a,b   Matsuo, Nobutake ^a,b  

^a KEIO UNIVERSITY   (Japan)

^b NAGASAKI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ALDOSTERONE; AMINO ACID; ANDROGEN; ASPARAGINE; ASPARTIC ACID; CORTICOTROPIN; CORTICOTROPIN RECEPTOR; CYTOSINE; GUANINE; HYDROCORTISONE; PRASTERONE SULFATE; RENIN; THYMINE; TRYPTOPHAN;

ADRENAL CORTEX INSUFFICIENCY; ADRENAL DISEASE; ADRENARCHE; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; HUMAN; MENSTRUAL CYCLE; OVARY DEVELOPMENT; PATIENT COMPLIANCE; PRIORITY JOURNAL;

ADRENAL GLAND DISEASES; ADRENAL GLANDS; ADRENOCORTICOTROPIC HORMONE; ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; HAIR; HETEROZYGOTE; HUMANS; MUTATION; RECEPTORS, CORTICOTROPIN; SEX CHARACTERISTICS;

EID: 0033824902     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2000.01040.x     Document Type: Article

References (11)

1. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor
2. Adrenocorficotropin insensitivity syndromes
3. Adrenal androgen secretion and biological effects
4. Demonstration by transfection strudies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency
5. A three dimensional model for the interaction of MSH with the melanocortin-1 receptor
6. ACTH receptor mutation in a gift with familial glucocorticoid deficiency
7. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene
8. A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome
9. Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency
10. Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche
11. Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: Relationships with clinical features in four families