PRKAR1A-related acrodysostosis with partial growth hormone deficiency: 18-month response to recombinant human growth...

To describe the 18-month auxological response to recombinant human growth hormone (rhGH) therapy in a pediatric patient with genetically confirmed PRKAR1A-related acrodysostosis and partial growth hormone deficiency (GHD).

A 3-year-9-month-old boy with genetically confirmed PRKAR1A-related acrodysostosis underwent comprehensive endocrine evaluation due to progressive growth deceleration. Growth hormone (GH) secretion was assessed using two pharmacological stimulation tests (glucagon and L-dopa). rhGH therapy was initiated and titrated based on clinical and biochemical response, with serial auxological and biochemical follow-up over 18 months.

At presentation (3 years 9 months), height was - 2.92 SDS with a growth velocity of 3 cm/year over the preceding year. Two stimulation tests demonstrated peak GH levels of 8 ng/mL and 5.5 ng/mL, consistent with partial GHD. Brain MRI revealed mild anterior pituitary hypoplasia. After 18 months of rhGH therapy, height increased from 89 cm to 103.5 cm and height SDS improved from - 2.92 to - 1.52 (Δ + 1.40 SDS), with a first-year height velocity of 11 cm/year. Bone age advanced from 2 years 8 months at treatment initiation to 4 years 6 months at 18 months. Serum IGF-1 increased while remaining within the age-adjusted laboratory reference range, and no adverse effects were observed during follow-up.

To our knowledge, this represents the second published pediatric case of type 1 acrodysostosis with documented partial GHD treated with rhGH. The marked auxological response over 18 months supports the concept that central GH axis impairment may coexist with the intrinsic skeletal pathology of the disorder in some patients.