Margaret F Keil1, Constantine A Stratakis. 1. Pediatric Endocrinology Inter-Institute Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Abstract
BACKGROUND: Tumors of the hypothalamic-pituitary unit have been linked to genetic syndromes that are associated with midfacial abnormalities. AIM: We hypothesized that mutations of genes that affect the development of the face (and consequently of the anterior pituitary) may be present in children with ACTH-producing pituitary adenomas, and if this is true then facial measurements would be different from those predicted by parental features. METHODS: We studied 20 children with corticotropinomas and a control group and their parents. All facial measurements were expressed according to standard deviation scores. RESULTS: Significant differences were seen between the children with pituitary adenomas and their parents for vertical facial height measures: nasal length (p < 0.001), lower facial height (p < 0.03) and overall facial height (p < 0.01). CONCLUSION: We conclude that some of the indices of midline craniofacial development, in particular those affecting the vertical axis, are different in children with corticotroph adenomas producing ACTH.
BACKGROUND: Tumors of the hypothalamic-pituitary unit have been linked to genetic syndromes that are associated with midfacial abnormalities. AIM: We hypothesized that mutations of genes that affect the development of the face (and consequently of the anterior pituitary) may be present in children with ACTH-producing pituitary adenomas, and if this is true then facial measurements would be different from those predicted by parental features. METHODS: We studied 20 children with corticotropinomas and a control group and their parents. All facial measurements were expressed according to standard deviation scores. RESULTS: Significant differences were seen between the children with pituitary adenomas and their parents for vertical facial height measures: nasal length (p < 0.001), lower facial height (p < 0.03) and overall facial height (p < 0.01). CONCLUSION: We conclude that some of the indices of midline craniofacial development, in particular those affecting the vertical axis, are different in children with corticotroph adenomas producing ACTH.
Authors: Dalia Batista; Nickolas A Courkoutsakis; Edward H Oldfield; Kurt J Griffin; Meg Keil; Nickolas J Patronas; Constantine A Stratakis Journal: J Clin Endocrinol Metab Date: 2005-06-07 Impact factor: 5.958
Authors: J G Hall; P D Pallister; S K Clarren; J B Beckwith; F W Wiglesworth; F C Fraser; S Cho; P J Benke; S D Reed Journal: Am J Med Genet Date: 1980