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Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare condition, characterized by resistance to the parath...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777483/ https://www.ncbi.nlm.nih.gov/pubmed/36553004 http://dx.doi.org/10.3390/diagnostics12122997 |
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author | Sciacchitano, Salvatore De Francesco, Gian Paolo Piane, Maria Savio, Camilla De Vitis, Claudia Petrucci, Simona Salvati, Valentina Goldoni, Marina Fabiani, Marco Mesoraca, Alvaro Micolonghi, Caterina Torres, Barbara Piccinetti, Annalisa Pippi, Roberto Mancini, Rita |
author_facet | Sciacchitano, Salvatore De Francesco, Gian Paolo Piane, Maria Savio, Camilla De Vitis, Claudia Petrucci, Simona Salvati, Valentina Goldoni, Marina Fabiani, Marco Mesoraca, Alvaro Micolonghi, Caterina Torres, Barbara Piccinetti, Annalisa Pippi, Roberto Mancini, Rita |
author_sort | Sciacchitano, Salvatore |
collection | PubMed |
description | Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare condition, characterized by resistance to the parathyroid hormone (PTH), as well as to many other hormones, and resulting in hypocalcemia, hyperphosphatemia, and elevated PTH. We report here the case of a 32-year-old woman with a long-standing history of non-treated hypocalcemia, in the context of an undiagnosed PHPT-1a. She had an intellectual disability, showed clinical features of the Albright hereditary osteodystrophy (AHO) and presented signs of multiple hormone resistances. She received treatment for seizures since the age of six. Examination of her mouth revealed a complete absence of teeth. Treatment of hypocalcemia and hormone deficiencies were started only at 29 years of age. Genetic testing demonstrated the presence of a frameshift variant in the GNAS gene in the proband as well as in her mother. A Single Nucleotide Polymorphism (SNP) array analysis failed to demonstrate pathogenic copy number variants (CNVs) but showed several regions with loss of heterozygosity (LOHs) for a final percentage of 1.75%, compatible with a fifth degree of relationship. Clinical exome sequencing (CES) ruled out any damaging variants in all the teeth agenesis-related genes. In conclusion, although we performed an extensive genetic analysis in search of possible additional gene alterations that could explain the presence of the peculiar phenotypic characteristics observed in our patient, we could not find any additional genetic defects. Our results suggest that the association of genetically confirmed PHPT-1a and complete pseudo-anodontia associated with persistent patchy alopecia areata is a new additional nonclassical feature related to the GNAS pathogenic variant. |
format | Online Article Text |
id | pubmed-9777483 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-97774832022-12-23 Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? Sciacchitano, Salvatore De Francesco, Gian Paolo Piane, Maria Savio, Camilla De Vitis, Claudia Petrucci, Simona Salvati, Valentina Goldoni, Marina Fabiani, Marco Mesoraca, Alvaro Micolonghi, Caterina Torres, Barbara Piccinetti, Annalisa Pippi, Roberto Mancini, Rita Diagnostics (Basel) Case Report Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare condition, characterized by resistance to the parathyroid hormone (PTH), as well as to many other hormones, and resulting in hypocalcemia, hyperphosphatemia, and elevated PTH. We report here the case of a 32-year-old woman with a long-standing history of non-treated hypocalcemia, in the context of an undiagnosed PHPT-1a. She had an intellectual disability, showed clinical features of the Albright hereditary osteodystrophy (AHO) and presented signs of multiple hormone resistances. She received treatment for seizures since the age of six. Examination of her mouth revealed a complete absence of teeth. Treatment of hypocalcemia and hormone deficiencies were started only at 29 years of age. Genetic testing demonstrated the presence of a frameshift variant in the GNAS gene in the proband as well as in her mother. A Single Nucleotide Polymorphism (SNP) array analysis failed to demonstrate pathogenic copy number variants (CNVs) but showed several regions with loss of heterozygosity (LOHs) for a final percentage of 1.75%, compatible with a fifth degree of relationship. Clinical exome sequencing (CES) ruled out any damaging variants in all the teeth agenesis-related genes. In conclusion, although we performed an extensive genetic analysis in search of possible additional gene alterations that could explain the presence of the peculiar phenotypic characteristics observed in our patient, we could not find any additional genetic defects. Our results suggest that the association of genetically confirmed PHPT-1a and complete pseudo-anodontia associated with persistent patchy alopecia areata is a new additional nonclassical feature related to the GNAS pathogenic variant. MDPI 2022-11-30 /pmc/articles/PMC9777483/ /pubmed/36553004 http://dx.doi.org/10.3390/diagnostics12122997 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Sciacchitano, Salvatore De Francesco, Gian Paolo Piane, Maria Savio, Camilla De Vitis, Claudia Petrucci, Simona Salvati, Valentina Goldoni, Marina Fabiani, Marco Mesoraca, Alvaro Micolonghi, Caterina Torres, Barbara Piccinetti, Annalisa Pippi, Roberto Mancini, Rita Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? |
title | Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? |
title_full | Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? |
title_fullStr | Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? |
title_full_unstemmed | Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? |
title_short | Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? |
title_sort | complete pseudo-anodontia in an adult woman with pseudo-hypoparathyroidism type 1a: a new additional nonclassical feature? |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777483/ https://www.ncbi.nlm.nih.gov/pubmed/36553004 http://dx.doi.org/10.3390/diagnostics12122997 |
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