Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?

November 2022 in “ Diagnostics ”

Salvatore Sciacchitano, Gian Paolo De Francesco, Maria Piane, Camilla Savio, Claudia De Vitis, Simona Petrucci, Valentina Salvati, Marina Goldoni, Marco Fabiani, Alvaro Mesoraca, Caterina Micolonghi, Bárbara Torres, Annalisa Piccinetti, Roberto Pippi, Rita Mancini

pseudo-hypoparathyroidism type 1a hypocalcemia hyperphosphatemia elevated PTH persistent patchy alopecia areata GNAS gene frameshift variant PHPT-1a low calcium high phosphate high parathyroid hormone hair loss GNAS mutation

TLDR A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

The study discusses a 32-year-old woman with Pseudo-hypoparathyroidism type 1a (PHPT-1a), a rare condition that causes resistance to certain hormones, leading to hypocalcemia, hyperphosphatemia, and elevated PTH. The patient also exhibited complete pseudo-anodontia (absence of teeth) and persistent patchy alopecia areata. Genetic testing revealed a frameshift variant in the GNAS gene, but no other genetic defects that could explain these unique characteristics. The researchers concluded that the combination of PHPT-1a and complete pseudo-anodontia, along with persistent patchy alopecia areata, is a new nonclassical feature related to the GNAS pathogenic variant. The study emphasizes the importance of early diagnosis and treatment of hypocalcemia in patients with PHPT-1a to prevent severe symptoms and allow normal tooth formation and eruption.

View this study on mdpi.com →