Growth hormone deficiency in autoimmune polyglandular disease type 1

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Autoimmune Polyglandular Disease Type 1 (APD1) is a rare genetic disorder.
• APD1 is characterized by autoimmune attacks on multiple endocrine glands.
• It often presents with mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency.

Observation:

• Two pediatric patients diagnosed with APD1 presented with significant clinical manifestations.
• Both patients exhibited subnormal linear growth velocity and delayed bone age.
• Both cases demonstrated growth hormone deficiency upon stimulated serum growth hormone testing.

Findings:

• The patients presented with a constellation of APD1 symptoms including mucocutaneous candidiasis, hypoparathyroidism, vitiligo, and adrenocortical insufficiency.
• Growth hormone deficiency was identified as a contributing factor to the impaired growth in both patients.
• The first patient showed a positive therapeutic response to growth hormone administration.

Implications:

• This case report highlights the potential for growth hormone deficiency in APD1.
• Early identification and intervention with growth hormone therapy can potentially improve growth outcomes in children with APD1.
• Further research is warranted to understand the prevalence and management of growth disturbances in APD1.