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- Title
Tall stature in familial glucocorticoid deficiency.
- Authors
Elias, Lucila L. K.; Huebner, Angela; Metherell, Louise A.; Canas, Atilio; Warne, Gary L.; Bitti, Maria L Manca; Cianfarani, Stefano; Clayton, Peter E.; Savage, Martin O.; Clark, Adrian J. L.
- Abstract
OBJECTIVEFamilial glucocorticoid deficiency (FGD) has frequently been associated with tall stature in affected individuals. The clinical, biochemical and genetic features of five such patients were studied with the aim of clarifying the underlying mechanisms of excessive growth in these patients. PATIENTS AND METHODSFive patients with a clinical diagnosis of FGD are described in whom the disorder resulted from a variety of novel or previously described missense or nonsense mutations of the ACTH receptor (MC2-R). All patients demonstrated excessive linear growth over that predicted from parental indices and increased head circumference. RESULTSGrowth hormone and IGF-I-values were normal. Growth charts suggest that the excessive growth is reduced to normal following the introduction of glucocorticoid replacement. A characteristic facial appearance including hypertelorism, marked epicanthic folds and prominent frontal bossing was noted. CONCLUSIONSThese findings indicate that ACTH resistance resulting from a defective ACTH receptor may be associated with abnormalities of cartilage and/or bone growth independently of the GH–IGF-I axis, but probably dependent on ACTH actions through other melanocortin receptors.
- Subjects
GLUCOCORTICOIDS; TALL stature; SOMATOTROPIN; ADRENOCORTICOTROPIC hormone
- Publication
Clinical Endocrinology, 2000, Vol 53, Issue 4, p423
- ISSN
0300-0664
- Publication type
Article
- DOI
10.1046/j.1365-2265.2000.01122.x