Evidence map›Paper›PMID 36553004›Full record

ArticleDiagnostics (Basel, Switzerland)2022

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

Salvatore Sciacchitano, Gian Paolo De Francesco, Maria Piane, Camilla Savio, Claudia De Vitis, Simona Petrucci, Valentina Salvati, Marina Goldoni, Marco Fabiani, Alvaro Mesoraca and 5 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 44% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 6 institutions in 1 country.

Salvatore SciacchitanoDepartment of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy.ORCID 0000-0003-1492-5365
Gian Paolo De FrancescoDepartment of Oncological Science, Breast Unit, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy.
Maria PianeDepartment of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy.ORCID 0000-0001-8569-247X
Camilla SavioUOD Medical Genetics and Advanced Cell Diagnostics, St. Andrea University Hospital, Via di Grottarossa, 1035/39, 00189 Rome, Italy.
Claudia De VitisDepartment of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy.ORCID 0000-0001-8899-2347
Simona PetrucciDepartment of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy.
Valentina SalvatiScientific Direction, IRCCS Regina Elena National Cancer Institute, Via Elio Chianesi 53, 00144 Rome, Italy.
Marina GoldoniMedical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Marco FabianiALTAMEDICA, Human Genetics, Viale Liegi 45, 00198 Rome, Italy.ORCID 0000-0002-8763-0114
Alvaro MesoracaALTAMEDICA, Human Genetics, Viale Liegi 45, 00198 Rome, Italy.
Caterina MicolonghiDepartment of Experimental Medicine, Faculty of Medicine and Dentistry, Policlinico Umberto I University Hospital, Sapienza University of Rome, 49971 Rome, Italy.ORCID 0000-0002-4275-0032
Barbara TorresMedical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-7007-7957
Annalisa PiccinettiDepartment of Internal Medicine, Belcolle Hospital, Str. Sammartinese, 01100 Viterbo, Italy.
Roberto PippiDepartment of Oral and Maxillofacial Sciences, Sapienza University, Via Caserta 6, 00161 Rome, Italy.
Rita ManciniDepartment of Clinical and Molecular Medicine, Sapienza University, Via di Grottarossa, 1035/1039, 00189 Rome, Italy.
CTO Andrea Alesini · ITSapienza University of Rome · ITCasa Sollievo della Sofferenza · ITPoliclinico Umberto I · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITOspedale di Belcolle · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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

Indexed as

GNASPHPT-1apseudo-anodontiapseudo-hypoparathyroidism type 1a

Identifiers

PMID36553004
PMCPMC9777483
OpenAlexW4310478184

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.