A CASE REPORT OF ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT INTELLECTUAL DISABILITY DUE TO A DE NOVO GNAS SPLICING VARIANT
DOI:
https://doi.org/10.21856/j-PEP.2025.1.11Keywords:
Albright Hereditary Osteodystrophy, pseudohypoparathyroidismAbstract
This case report details a 12-year-old boy with Albright Hereditary Osteodystrophy (AHO) without intellectual disability due to a de novo GNAS splicing variant. Presenting with obesity, seizure syndrome, the patient exhibited typical AHO features, elevated parathyroid hormone levels alongside hypocalcemia and hyperphosphatemia, but normal cognitive function. MRI and ultrasound revealed calcifications in the brain and kidneys. Genetic testing confirmed PHP type IA with a heterozygous pathogenic variant NM_000516.7: c.312+5G>A in the GNAS gene. Treatment with Levothyroxine, Calcitriol, and Calcium citrate improved laboratory parameters and reduced seizure frequency. This case underscores the clinical variability of PHP IA and the importance of genetic testing and a multidisciplinary approach in managing the condition.
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