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Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion

Edward J Bellfield1, Jacqueline Chan1, Sarah Durrin2

  • 1Division of Pediatric Endocrinology, University of Illinois College of Medicine, Chicago, IL 60612, USA.

Case Reports in Endocrinology
|November 16, 2016
PubMed

Insights

This case report details an infant with 18p deletion syndrome and anterior pituitary aplasia due to a ring chromosome. Close monitoring is crucial for affected infants, highlighting the need for careful radiological review.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • 18p deletion syndrome is a rare chromosomal disorder.
  • Anterior pituitary aplasia is a severe endocrine abnormality.
  • Ring chromosomes can lead to complex genetic syndromes.

Purpose of the Study:

  • To report the first case of 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome.
  • To emphasize the importance of longitudinal endocrine monitoring in infants with 18p deletion syndrome.
  • To highlight the necessity of thorough radiological assessment in diagnosing pituitary abnormalities.

Main Methods:

  • Case report of an infant with 18p deletion syndrome.
  • Initial and repeat endocrine workup.
  • Magnetic Resonance Imaging (MRI) for pituitary evaluation.

Main Results:

  • The infant presented with anterior pituitary aplasia and ectopic posterior pituitary.
  • Central hypopituitarism was confirmed upon repeat endocrine testing.
  • Initial MRI interpretation missed the pituitary aplasia, requiring subsequent review.

Conclusions:

  • Deletion of genetic material, even in a ring chromosome, can cause severe syndromic phenotypes.
  • Close follow-up is essential for infants with 18p deletion syndrome.
  • Radiological findings in pituitary abnormalities require careful verification.

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