首页 | 本学科首页   官方微博 | 高级检索  
检索        


Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: A family report
Institution:1. EA 4666, département de génétique, université de Picardie-Jules-Verne, CHU d’Amiens, 80054 Amiens, France;2. Unité d’endocrinologie, département de pédiatrie, CHU d’Amiens, 80054 Amiens, France;3. Laboratoire de cytogénétique, CHU d’Amiens, 80054 Amiens, France;4. Laboratoire de cytogénétique, CHU de Caen, 14033 Caen, France;5. Institut de génétique médicale, hôpital Jeanne-de-Flandre, CHRU de Lille, 59037 Lille, France;6. Département d’ophtalmologie, CHU d’Amiens, 80054 Amiens, France;1. Laboratoire de bactériologie-hygiène, hôpital Purpan, CHU de Toulouse, 31059 Toulouse, France;2. Service de médecine et de lutte antituberculose, hôpital J.-Ducuing, 1, rue Varsovie, 31300 Toulouse, France;3. Service d’endocrinologie-médecine, hôpital J.-Ducuing, 1, rue Varsovie, 31300 Toulouse, France;4. Service d’endocrinologie, maladies métaboliques, nutrition, pôle cardiovasculaire et métabolique, hôpital Larrey, CHU de Toulouse, 24, chemin de Pouvourville, TSA 30030, 31059 Toulouse cedex, France;5. 3, rue Olier, 75015 Paris, France;1. The Gilbert Family Neurofibromatosis Institute, Children''s National Health System, Washington, DC;2. Department of Neurology, Children''s National Health System, Washington, DC;3. Department of Ophthalmology, Children''s National Health System, Washington, DC;4. Department of Pediatrics, Children''s National Health System, Washington, DC;5. Center for Neuroscience and Behavior, Children''s National Health System, Washington, DC;6. Division of Biostatistics and Study Methodology, Children''s National Health System, Washington, DC;7. The Brain Tumor Institute, Children''s National Health System, Washington, DC;8. University of Pittsburgh Medical Center Eye Center, Eye and Ear Institute, Ophthalmology and Visual Science Research Center, Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania;9. Department of Bioengineering, Swanson School of Engineering, University of Pittsburgh, Pittsburgh, Pennsylvania;10. Division of Ophthalmology, Children''s Hospital of Philadelphia, Philadelphia, Pennsylvania;1. The Gilbert Family Neurofibromatosis Institute, Children''s National Health System, Washington, DC;2. Department of Neurology, Children''s National Health System, Washington, DC;3. Department of Ophthalmology, Children''s National Health System, Washington, DC;4. Department of Pediatrics, Children''s National Health System, Washington, DC;5. Center for Neuroscience and Behavior, Children''s National Health System, Washington, DC;6. Division of Biostatistics and Study Methodology, Children''s National Health System, Washington, DC;7. The Brain Tumor Institute, Children''s National Health System, Washington, DC;8. UPMC Eye Center, Eye and Ear Institute, Ophthalmology and Visual Science Research Center, Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania;9. Department of Bioengineering, Swanson School of Engineering, University of Pittsburgh, Pittsburgh, Pennsylvania;10. Division of Ophthalmology, Children''s Hospital of Philadelphia, Philadelphia, Pennsylvania;1. Department of surgery, surgery and abdominal transplantation division, cliniques universitaires Saint-Luc, avenue Hippocrate 10, 1200 Brussels, Belgium;2. Department of internal medicine, endocrinology and nutrition division, université catholique de Louvain, cliniques universitaires Saint-Luc, avenue Hippocrate 10, 1200 Brussels, Belgium;1. Department of Endocrinology and Metabolism Disease, Darica Farabi State Hospital, Darica, Kocaeli, Turkey;2. Internal Medicine, Ankara Numune Training and Research Hospital, Ankara, Turkey;3. National Institute of Diabetes and Digestive and Kidney Diseases, Diabetes, Endocrine and Obesity Branch, National Institutes of Health, 20892 Bethesda, MD, USA;4. Endocrinology and Metabolism Disease, Dicle University, Diyarbakır, Turkey;5. Endocrinology and Metabolism Disease, Ankara Numune Training and Research Hospital, Ankara, Turkey;6. Endocrinology and Metabolism Disease, Hitit university, Çorum, Turkey
Abstract:Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic–pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic–pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated.
Keywords:Cat-Eye syndrome  Growth hormone deficiency  Pituitary malformation  Mosaicism  Syndrome Cat-Eye  Déficit en hormone de croissance  Malformation hypothalamo-hypophysaire  Mosaïcisme
本文献已被 ScienceDirect 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号