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Published on: January 17, 2018
Patient report: sacral agenesis with hypopituitarism
Abhay Gundgurthi1, Manoj K Dutta, Rajiv Pakhetra
1Department of Endocrinology, Army Hospital (Referral & Research), Delhi Cantt, India.
Summary
A child born to a diabetic mother had sacral agenesis and hypopituitarism, leading to short stature. Early detection of growth hormone deficiency (GHD) and adrenal insufficiency is crucial for treatment and growth.
Area of Science:
- Pediatric Endocrinology
- Developmental Biology
- Genetics
Background:
- Maternal diabetes is a known risk factor for congenital anomalies.
- Sacral agenesis is a complex congenital malformation with diverse etiologies.
- Hypopituitarism can present with various endocrine deficiencies, impacting growth and development.
Observation:
- A neonate born to a diabetic mother presented with significant short stature.
- Clinical evaluation revealed sacral agenesis, a malformation of the sacrum.
- Endocrine assessment indicated growth hormone deficiency (GHD) and adrenal insufficiency.
Findings:
- The study identified a co-occurrence of sacral agenesis and hypopituitarism in the affected child.
- Growth hormone deficiency (GHD) was confirmed as a contributing factor to the child's short stature.
- Adrenal insufficiency was also diagnosed, highlighting the systemic endocrine impact.
Implications:
- This case suggests a potential link between maternal diabetes, sacral agenesis, and hypopituitarism.
- Short stature in sacral agenesis may not solely be due to mechanical factors, but also endocrine dysfunction.
- Timely diagnosis and treatment of GHD and adrenal insufficiency are vital for optimizing growth outcomes in affected children.
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