A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review

Journal of Pediatric Endocrinology and Metabolism

Volumn 17, Issue 1, 2004, Pages 85-92

  Selva, Karin A ^a,b   LaFranchi, Stephen H ^a   Boston, Bruce ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b Leg E Child Diabet/Endocr Ctr   (United States)

Author keywords

ACTH receptor mutations; ACTH unresponsiveness; Familial glucorticoid deficiency

Indexed keywords

CORTICOTROPIN; CORTICOTROPIN RECEPTOR; GLUCOCORTICOID; HYDROCORTISONE; MINERALOCORTICOID;

ADOLESCENT; ALLGROVE SYNDROME; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CORTICOTROPIN BLOOD LEVEL; FAILURE TO THRIVE; FEMALE; GENETIC HETEROGENEITY; GLUCOCORTICOSTEROID DEFICIENCY; HETEROZYGOSITY; HORMONE DEFICIENCY; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERPIGMENTATION; HYPOGLYCEMIA; MEDICAL LITERATURE; MUTATIONAL ANALYSIS; ONSET AGE; PHENOTYPE; POINT MUTATION; RECURRENT DISEASE; REVIEW; SEQUENCE ANALYSIS; SHORT STATURE; SYMPTOMATOLOGY; TALL STATURE;

EID: 3142746830     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2004.17.1.85     Document Type: Review

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