Jedraszak Guillaume, Braun Karine, Receveur Aline, Decamp Matthieu, Andrieux Joris, Rabbind Singh Amrathlal, Copin Henri, Bremond-Gignac Dominique, Mathieu Michèle, Rochette Jacques, Morin Gilles
EA 4666, département de génétique, université de Picardie-Jules-Verne, CHU d'Amiens, 80054 Amiens, France; Laboratoire de cytogénétique, CHU d'Amiens, 80054 Amiens, France.
Unité d'endocrinologie, département de pédiatrie, CHU d'Amiens, 80054 Amiens, France.
Ann Endocrinol (Paris). 2015 Oct;76(5):629-34. doi: 10.1016/j.ando.2015.02.002. Epub 2015 Oct 27.
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.
生长激素缺乏症影响大约三千分之一至四千分之一的儿童，大多数生长激素缺乏症病例为特发性。生长激素缺乏症也可能与遗传疾病或染色体异常有关。生长激素缺乏症与下丘脑 - 垂体轴畸形和猫眼综合征同时存在是一种非常罕见的情况。我们报告了一个家庭，有两个兄弟因与一种多发畸形综合征相关的生长激素缺乏症而出现生长发育迟缓。他们都有耳前凹和赘生物、肛门闭锁和杜安眼球后退综合征。父母和第三个未受影响的儿子生长模式正常。脑部磁共振成像显示两个患病兄弟存在下丘脑 - 垂体轴畸形。细胞遗传学研究揭示了一条源自22号染色体的I型小额外标记染色体，导致22号染色体短臂末端至22号染色体q11.21区域的四体性，这是猫眼综合征的特征。这条小额外标记染色体以嵌合状态存在于两个患病儿子和母亲体内。因生长激素缺乏症导致身材矮小的患者应评估是否存在染色体异常。家庭研究不应被低估。
