Abstract |
We report the case of a 26-month-old boy with mental retardation, facial dysmorphism, childhood feeding difficulties, short stature, bilateral cryptorchidism, micropenis, and heart defect. Endocrinal evaluation revealed complete growth hormone deficiency (GHD) and gonadotropic deficiency, and pituitary magnetic resonance imaging showed partial pituitary stalk interruption syndrome (PSIS). A de novo 493 kb microdeletion on chromosome 17q21.31 was identified using array comparative genomic hybridization (array-CGH) analysis. This is the first report of PSIS in the phenotypical spectrum of 17q21.31 microdeletion syndrome, although other midline abnormalities have previously been described. Our report suggests that GHD should be investigated in patients with 17q21.31 microdeletion syndrome and short stature, defined by a body height below - 2 standard deviation scores (SDS) for age and sex. This finding also opens new avenues of research on the etiopathogenesis of PSIS, for which the genetic mechanisms remain unknown.
|
Authors | Salima El Chehadeh-Djebbar, Patrick Callier, Alice Masurel-Paulet, Candace Bensignor, Nathalie Méjean, Muriel Payet, Clémence Ragon, Christine Durand, Nathalie Marle, Anne-Laure Mosca-Boidron, Frédéric Huet, Francine Mugneret, Laurence Faivre, Christel Thauvin-Robinet |
Journal | European journal of medical genetics
(Eur J Med Genet)
Vol. 54
Issue 3
Pg. 369-73
( 2011)
ISSN: 1878-0849 [Electronic] Netherlands |
PMID | 21397059
(Publication Type: Case Reports, Journal Article)
|
Copyright | Copyright © 2011 Elsevier Masson SAS. All rights reserved. |
Topics |
- Abnormalities, Multiple
(genetics, pathology)
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 17
(genetics)
- Comparative Genomic Hybridization
- Face
(abnormalities)
- Genitalia, Male
(abnormalities)
- Growth Disorders
(pathology)
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability
(pathology)
- Male
- Pituitary Gland
(abnormalities)
- Syndrome
|