Ann Pediatr Endocrinol Metab.  2019 Mar;24(1):60-63. 10.6065/apem.2019.24.1.60.

A case of de novo 18p deletion syndrome with panhypopituitarism

• Yang A
• Kim J
• Cho SY
• Lee JE
• Kim HJ
• Jin DK

• KMID: 2447378
• DOI: http://doi.org/10.6065/apem.2019.24.1.60

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.

Keyword

18p deletion syndrome; Growth hormone; SNP microarray

MeSH Terms

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
Growth Hormone
Human Growth Hormone

Figure

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  Fig. 1. Sella magnetic resonance imaging scan of the patient at age 46 days. Unenhanced midline sagittal T1-weighted image shows poorly visualized pituitary gland in the upper stalk (arrowhead) with ectopic hypothalamic posterior gland (arrow).

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  Fig. 2. Chromosome analysis of the patient. The G-banded karyogram (550 band level) indicated deletion in the short arm of chromosome 18 (white arrow).

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  Fig. 3. Chromosomal microarray results of the patient. (A) Array analysis indicated a 1.7-Mb duplication in Xp22.31. This copy number gain was inherited from her normal father and seems to be a benign copy number variation. (B) Array analysis indicated a 14.9-Mb (136,227–15,099,116) deletion in 18p11.32p11.21 (the deleted region is indicated by a red box with light blue outline). The X-axis represents the probe index on chromosome 18, and the Y-axis represents the signal log2 ratio of the probe.

Reference

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