Am J Case Rep. 2025 Nov 16;26:e948160. doi: 10.12659/AJCR.948160.
ABSTRACT
BACKGROUND Alpha-fetoprotein (AFP) is a glycoprotein with a high serum level during pregnancy, hepatocyte proliferation, and malignant conditions in clinical settings. Hereditary persistence of alpha-fetoprotein (HPAFP) is a rare benign disorder characterized by elevated serum levels of AFP without any relevant clinical disability. Recent research has demonstrated it to be an autosomal dominant inheritance type; however, only 9 of the 30 recently reported cases could be explained by genetic analysis. CASE REPORT We describe a girl with growth retardation for 5 years who was accidentally found to have had high serum AFP for 2 years. The elevated serum AFP level delayed the application of recombinant human growth hormone (rhGH) for short stature. Multiple computed tomography (CT) scans did not reveal any space-occupying lesion in the epigastric region. Brain and spinal magnetic resonance imaging and positron emission tomography-CT showed normal results. AFP and ß-HCG levels in her cerebrospinal fluid were also normal. Finally, we found that her father and paternal grandfather also had high AFP levels, and HPAFP was diagnosed. However genetic analysis failed to identify any positive mutation related to the condition in this family. To treat the short stature, rhGH at a dose of 0.39 mg/kg of body weight was given and the patient was followed up for 20 months. Her AFP level remained stable during treatment and her height-for-age Z-score improved from -4.4 SD to -2.8 SD (mid-parental height Z-score). CONCLUSIONS We report a new family of HPAFP and emphasize that a pedigree tree could be important evidence for diagnosis, despite negative genetic test results. For our short-stature patient with HPAFP, rhGH treatment was safe and efficient.
PMID:41241770 | DOI:10.12659/AJCR.948160
