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Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.
- Source :
-
Annales d'endocrinologie [Ann Endocrinol (Paris)] 2015 Oct; Vol. 76 (5), pp. 629-34. Date of Electronic Publication: 2015 Oct 27. - Publication Year :
- 2015
-
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.<br /> (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)
- Subjects :
- Abnormalities, Multiple genetics
Aneuploidy
Chromosome Aberrations
Chromosome Disorders drug therapy
Chromosome Disorders genetics
Chromosomes, Human, Pair 22 genetics
Eye Abnormalities drug therapy
Eye Abnormalities genetics
Hormone Replacement Therapy
Human Growth Hormone therapeutic use
Humans
Hypothalamus abnormalities
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Male
Chromosome Disorders diagnosis
Eye Abnormalities diagnosis
Human Growth Hormone deficiency
Pituitary Gland abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 2213-3941
- Volume :
- 76
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Annales d'endocrinologie
- Publication Type :
- Academic Journal
- Accession number :
- 26518262
- Full Text :
- https://doi.org/10.1016/j.ando.2015.02.002