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Published on: January 17, 2018
Congenital hypopituitarism and microphthalmia. Report of two cases
1Department of Pediatrics, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298-0140.
Insights
This study highlights a potential link between microphthalmia and hypopituitarism in children. Early growth hormone treatment improved linear growth, weight gain, and head growth in affected infants.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Microphthalmia, a congenital condition of incomplete eye development, can be associated with various systemic abnormalities.
- Hypopituitarism, characterized by deficiencies in pituitary hormones, can lead to significant growth and developmental issues in early childhood.
Abstract:
Two children are described who had microphthalmia (one with unilateral and one with bilateral) noted at birth, and whose early onset of poor linear growth and weight gain led to a diagnosis of hypopituitarism prior to two years of age. Both children had growth hormone and thyroid-stimulating hormone deficiencies, and evidence of partial ACTH deficiency. Administration of growth hormone resulted not only in rapid linear growth but it also reversed the poor weight gain and head growth noted in these children. These cases suggest that hypopituitarism and microphthalmia may be associated with each other more frequently than has been recognized previously.

