Empty sella associated with growth hormone deficiency and polydactyly

Area of Science:

• Pediatric Endocrinology
• Radiology
• Genetics

Background:

• Empty sella syndrome is characterized by the absence of the pituitary gland on imaging.
• It is considered a pathological variant of imaging findings.
• This case involves a young child presenting with short stature.

Observation:

• A four-year-old male child was diagnosed with empty sella syndrome via imaging.
• The cause of his short stature was identified as isolated growth hormone (GH) deficiency.
• He also presented with postaxial polydactyly of the left hand.

Findings:

• The case highlights the co-occurrence of empty sella syndrome, GH deficiency, and polydactyly.
• This specific combination has not been previously documented in medical literature.
• The association is considered likely coincidental.

Implications:

• This case expands the understanding of potential clinical presentations associated with empty sella syndrome.
• It underscores the importance of thorough investigation in children with short stature and congenital anomalies.
• Further research may explore potential genetic or developmental links, though coincidence is currently favored.