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Extra-Pituitary Birth Defects May Predict Diagnosis of Congenital Hypopituitarism in a Short Child

Pinaki Dutta1, Prakamya Gupta2, Paramjeet Singh3

  • 1Department of Endocrinology.

The Journal of the Association of Physicians of India
|September 9, 2016
PubMed

Insights

Extra-pituitary birth defects (EPBD) are common in children with congenital hypopituitarism. These birth defects can serve as sensitive markers for diagnosing this condition, particularly subtle visual pathway abnormalities.

Area of Science:

  • Pediatric Endocrinology
  • Genetics and Developmental Biology

Background:

  • The occurrence and characteristics of extra-pituitary birth defects (EPBD) in children diagnosed with congenital hypopituitarism are not well-documented.
  • Congenital hypopituitarism is a rare disorder characterized by the underproduction of one or more pituitary hormones, leading to various developmental issues.

Purpose of the Study:

  • To determine the incidence and common patterns of EPBD in children with congenital hypopituitarism.
  • To investigate if EPBD can be utilized as an early diagnostic indicator for congenital hypopituitarism.

Main Methods:

  • Retrospective analysis of hospital records for patients with short stature due to various etiologies.
  • Inclusion criteria: patients diagnosed with congenital hypopituitarism, aged 18 years or older.
  • Data collected included clinical, hormonal, radiological, and ocular electrophysiological findings, with a focus on documenting all EPBD.

Main Results:

  • Twenty-seven patients (79%) presented with multiple pituitary hormone deficiency (MPHD), with growth hormone deficiency being universal.
  • Nineteen patients (56%) exhibited multiple EPBD, including ocular (35%) and skeletal (29.5%) defects.
  • Abnormalities of the visual system were frequent, with abnormal visual evoked response (VER) in 18% and strabismus in 15%.

Conclusions:

  • EPBD in short children serve as a sensitive marker for diagnosing congenital hypopituitarism.
  • Subtle visual pathway abnormalities are common, even in the absence of midline brain defects like absent septum pellucidum.
Abstract

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