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

• DOI: 10.3390/diagnostics12122997
• Publication Date: 2022-11-30T12:38:50Z
• Authors: Salvatore Sciacch...; Gian Paolo De Fra...; Maria Piane; Camilla Savio; Claudia De Vitis; Simona Petrucci; Valentina Salvati; Marina Goldoni; Marco Fabiani; Alvaro Mesoraca; Caterina Micolonghi; Barbara Torres; Annalisa Piccinetti; Roberto Pippi; Rita Mancini
• Keywords: Proband; Hypoparathyroidism; Germline mosaicism; SNP array

Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure their eruption. It has been reported as part an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a condition, characterized by resistance parathyroid hormone (PTH), well many other hormones, and resulting hypocalcemia, hyperphosphatemia, elevated PTH. We report here case 32-year-old woman with long-standing history non-treated context undiagnosed PHPT-1a. She had intellectual disability, showed clinical features Albright hereditary osteodystrophy (AHO) presented signs multiple resistances. received treatment for seizures since age six. Examination her mouth revealed complete teeth. Treatment hypocalcemia deficiencies were started only at 29 years age. Genetic testing demonstrated presence frameshift variant GNAS gene proband mother. A Single Nucleotide Polymorphism (SNP) array analysis failed demonstrate pathogenic copy number variants (CNVs) but several regions loss heterozygosity (LOHs) final percentage 1.75%, compatible fifth degree relationship. Clinical exome sequencing (CES) ruled out any damaging all teeth agenesis-related genes. In conclusion, although we performed extensive genetic search possible additional alterations that could explain peculiar phenotypic characteristics observed our patient, find defects. Our results suggest association genetically confirmed PHPT-1a pseudo-anodontia associated persistent patchy alopecia areata new nonclassical feature related variant.