title: Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.
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.
authors.affiliation: 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.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Jedraszak
authors.affiliation: Unité d'endocrinologie, département de pédiatrie, CHU d'Amiens, 80054 Amiens, France.
authors.forename: Karine
authors.initials: K
authors.lastname: Braun
authors.affiliation: Laboratoire de cytogénétique, CHU d'Amiens, 80054 Amiens, France.
authors.forename: Aline
authors.initials: A
authors.lastname: Receveur
authors.affiliation: Laboratoire de cytogénétique, CHU de Caen, 14033 Caen, France.
authors.forename: Matthieu
authors.initials: M
authors.lastname: Decamp
authors.affiliation: Institut de génétique médicale, hôpital Jeanne-de-Flandre, CHRU de Lille, 59037 Lille, France.
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.affiliation: EA 4666, département de génétique, université de Picardie-Jules-Verne, CHU d'Amiens, 80054 Amiens, France.
authors.forename: Amrathlal
authors.initials: A
authors.lastname: Rabbind Singh
authors.affiliation: Laboratoire de cytogénétique, CHU d'Amiens, 80054 Amiens, France.
authors.forename: Henri
authors.initials: H
authors.lastname: Copin
authors.affiliation: Département d'ophtalmologie, CHU d'Amiens, 80054 Amiens, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Bremond-Gignac
authors.affiliation: EA 4666, département de génétique, université de Picardie-Jules-Verne, CHU d'Amiens, 80054 Amiens, France.
authors.forename: Michèle
authors.initials: M
authors.lastname: Mathieu
authors.affiliation: EA 4666, département de génétique, université de Picardie-Jules-Verne, CHU d'Amiens, 80054 Amiens, France.
authors.forename: Jacques
authors.initials: J
authors.lastname: Rochette
authors.affiliation: EA 4666, département de génétique, université de Picardie-Jules-Verne, CHU d'Amiens, 80054 Amiens, France. Electronic address: morin.gilles@chu-amiens.fr.
authors.forename: Gilles
authors.initials: G
authors.lastname: Morin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D020249:Hormone Replacement Therapy; D019382:Human Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use; D006801:Humans; D007031:Hypothalamus / Q000002:abnormalities; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010902:Pituitary Gland / Q000002:abnormalities*
chemical_list: D019382:Human Growth Hormone
keywords: Cat-Eye syndrome; Déficit en hormone de croissance; Growth hormone deficiency; Malformation hypothalamo-hypophysaire; Mosaicism; Mosaïcisme; Pituitary malformation; Syndrome Cat-Eye