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

Autor: Sciacchitano S; Department of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy., De Francesco GP; Department of Oncological Science, Breast Unit, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy., Piane M; Department of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy.; UOD Medical Genetics and Advanced Cell Diagnostics, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy., Savio C; UOD Medical Genetics and Advanced Cell Diagnostics, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy., De Vitis C; Department of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy., Petrucci S; Department of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy.; UOD Medical Genetics and Advanced Cell Diagnostics, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy., Salvati V; Scientific Direction, IRCCS Regina Elena National Cancer Institute, Via Elio Chianesi 53, 00144 Rome, Italy., Goldoni M; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Fabiani M; ALTAMEDICA, Human Genetics, Viale Liegi 45, 00198 Rome, Italy.; Department of Experimental Medicine, Faculty of Medicine and Dentistry, Policlinico Umberto I University Hospital, Sapienza University of Rome, 49971 Rome, Italy., Mesoraca A; ALTAMEDICA, Human Genetics, Viale Liegi 45, 00198 Rome, Italy., Micolonghi C; Department of Experimental Medicine, Faculty of Medicine and Dentistry, Policlinico Umberto I University Hospital, Sapienza University of Rome, 49971 Rome, Italy., Torres B; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Piccinetti A; Department of Internal Medicine, Belcolle Hospital, Str. Sammartinese, 01100 Viterbo, Italy., Pippi R; Department of Oral and Maxillofacial Sciences, Sapienza University, Via Caserta 6, 00161 Rome, Italy., Mancini R; Department of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy.
Jazyk: angličtina
Zdroj: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2022 Nov 30; Vol. 12 (12). Date of Electronic Publication: 2022 Nov 30.
DOI: 10.3390/diagnostics12122997
Abstrakt: 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.
Competing Interests: The authors declare no conflicts of interest.
Databáze: MEDLINE
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