Tall stature in familial glucocorticoid deficiency
Lucila L. K. Elias
Departments of Endocrinology, St Bartholomew's and the Royal London School of Medicine and Dentistry, London, UK,
Search for more papers by this authorAngela Huebner
Children's Hospital, Technical University Dresden, Dresden, Germany,
Search for more papers by this authorLouise A. Metherell
Departments of Endocrinology, St Bartholomew's and the Royal London School of Medicine and Dentistry, London, UK,
Search for more papers by this authorAtilio Canas
Department of Paediatric Endocrinology, Winthrop University Hospital, Mineola, NY, USA,
Search for more papers by this authorGary L. Warne
Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Victoria, Australia,
Search for more papers by this authorMaria L Manca Bitti
Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Victoria, Australia,
Search for more papers by this authorStefano Cianfarani
Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Victoria, Australia,
Search for more papers by this authorPeter E. Clayton
Endocrine Sciences Research Group, Department of Medicine, University of Manchester, Manchester, UK
Search for more papers by this authorMartin O. Savage
Departments of Endocrinology, St Bartholomew's and the Royal London School of Medicine and Dentistry, London, UK,
Search for more papers by this authorAdrian J. L. Clark
Departments of Endocrinology, St Bartholomew's and the Royal London School of Medicine and Dentistry, London, UK,
Search for more papers by this authorLucila L. K. Elias
Departments of Endocrinology, St Bartholomew's and the Royal London School of Medicine and Dentistry, London, UK,
Search for more papers by this authorAngela Huebner
Children's Hospital, Technical University Dresden, Dresden, Germany,
Search for more papers by this authorLouise A. Metherell
Departments of Endocrinology, St Bartholomew's and the Royal London School of Medicine and Dentistry, London, UK,
Search for more papers by this authorAtilio Canas
Department of Paediatric Endocrinology, Winthrop University Hospital, Mineola, NY, USA,
Search for more papers by this authorGary L. Warne
Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Victoria, Australia,
Search for more papers by this authorMaria L Manca Bitti
Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Victoria, Australia,
Search for more papers by this authorStefano Cianfarani
Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Victoria, Australia,
Search for more papers by this authorPeter E. Clayton
Endocrine Sciences Research Group, Department of Medicine, University of Manchester, Manchester, UK
Search for more papers by this authorMartin O. Savage
Departments of Endocrinology, St Bartholomew's and the Royal London School of Medicine and Dentistry, London, UK,
Search for more papers by this authorAdrian J. L. Clark
Departments of Endocrinology, St Bartholomew's and the Royal London School of Medicine and Dentistry, London, UK,
Search for more papers by this authorAbstract
OBJECTIVE
Familial 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 METHODS
Five 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.
RESULTS
Growth 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.
CONCLUSIONS
These 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.
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