A case of de novo 18p deletion syndrome with panhypopituitarism
10.6065/apem.2019.24.1.60
- Author:
Aram YANG
1
;
Jinsup KIM
;
Sung Yoon CHO
;
Ji Eun LEE
;
Hee Jin KIM
;
Dong Kyu JIN
Author Information
1. Department of Pediatrics, Inha University Hospital, Inha University College of Medicine, Incheon, Korea.
- Publication Type:Case Report
- Keywords:
18p deletion syndrome;
Growth hormone;
SNP microarray
- MeSH:
Arm;
Brain;
Child, Preschool;
Chromosomes, Human, Pair 18;
Cytogenetics;
Diagnosis;
Ear;
Female;
Genetic Association Studies;
Growth Hormone;
Holoprosencephaly;
Human Growth Hormone;
Humans;
Intellectual Disability;
Magnetic Resonance Imaging;
Microarray Analysis;
Microcephaly;
Neck;
Otitis Media with Effusion;
Pituitary Gland;
Pituitary Gland, Posterior;
Prognosis;
Sella Turcica;
Ventilation
- From:Annals of Pediatric Endocrinology & Metabolism
2019;24(1):60-63
- CountryRepublic of Korea
- Language:English
-
Abstract:
Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from minor congenital malformations to holoprosencephaly. We present a case of a 2-year-old girl with ptosis, a round face, broad neck with low posterior hairline, short stature, and panhypopituitarism. She underwent ventilation tube insertion for recurrent otitis media with effusion. Brain magnetic resonance imaging showed an ectopic posterior pituitary gland and a shallow, small sella turcica with poor visualization of the pituitary stalk. Cytogenetic and chromosomal microarray analysis revealed a de novo deletion on the short arm of chromosome 18 (arr 18p11.32p11.21[136,227–15,099,116]x1). She has been treated with recombinant human growth hormone (GH) therapy since the age of 6 months after diagnosis of GH deficiency. Her growth rate has improved without any side effects from the GH treatment. This case expands the phenotypic spectrum of 18p deletion syndrome and emphasizes the positive impact of GH therapy on linear growth in this syndrome characterized by growth deficiency. Further studies are required to define the genotype-phenotype correlation according to size and loci of the deletion in 18p deletion syndrome and to predict prognosis.
