Evidence map›Paper›PMID 35689291›Full record

ArticleItalian journal of pediatrics2022

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity.

Reinaldo Luna de Omena Filho, Reginaldo José Petroli, Fernanda Caroline Soardi, Débora de Paula Michelatto, Taís Nitsch Mazzola, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Susane Vasconcelos Zanotti, Ida Cristina Gubert, Isabella Monlleo

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Italian journal of pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 53% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Review
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

10 authors at 3 institutions in 1 country.

Reinaldo Luna de Omena FilhoMaternal, Child and Adolescent Health Center, State University of Health Sciences of Alagoas, Postgraduate Program in Health Sciences of the Institute of Biological and Health Sciences of the Federal University of Alagoas, Maceió, Brazil.
Reginaldo José PetroliMedical Genetics Sector, Faculty of Medicine, Federal University of Alagoas, Maceió, Brazil.
Fernanda Caroline SoardiLaboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, State University of Campinas, Campinas, Brazil.
Débora de Paula MichelattoMedical Genetics Sector, Faculty of Medicine, Federal University of Alagoas, Maceió, Brazil.
Taís Nitsch MazzolaLaboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, State University of Campinas, Campinas, Brazil.
Helena Fabbri-ScalletLaboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, State University of Campinas, Campinas, Brazil.
Maricilda Palandi de MelloLaboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, State University of Campinas, Campinas, Brazil.
Susane Vasconcelos ZanottiInstitute of Psychology, Federal University of Alagoas, Maceió, Brazil.
Ida Cristina GubertInternal Review Board, Federal University of Parana, Curitiba, Brazil.
Isabella MonlleoClinical Genetics Service, Medical Genetics Sector, Faculty of Medicine, University Hospital, Federal University of Alagoas, Avenida Lourival Melo Mota, S/N, Tabuleiro 23 do Martins, 57072-970, Maceió, Alagoas, Brasil. isabella.monlleo@gmail.com.ORCID http://orcid.org/0000-0003-0992-2151
Universidade Federal de Alagoas · BRUniversidade Estadual de Campinas (UNICAMP) · BRUniversidade Federal do Paraná · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosomes comprises diverse and rare etiologies. The deficiency of 17-beta-hydroxysteroid dehydrogenase type 3 enzyme (HSD17B3) is a rare autosomal recessive disorder due to functionally altered variants of the HSD17B3 gene. In this disorder/difference of sex development, the conversion of androstenedione into testosterone is impaired. The appearance of external genitalia of 46,XY individuals varies from typically male to almost female. CASE PRESENTATION: We report on a child presenting severe ambiguous genitalia. Due to access constraints, specialized care did not start until the child was 10 months old. Parents are consanguineous and were born in an area of high isonymy that is a cluster for rare recessive diseases. A new homozygous missense variant c.785G > T was found in exon 10 of the HSD17B3 gene.

conclusionsResearchers-clinicians and researchers-researchers collaborative efforts to elucidate the genetic basis of this disease were critical since this etiologic investigation is not available through the public health system. This case exemplifies the families' pilgrimage in cases of genital ambiguity due to a rare genetic condition. Recognizing the etiology was the baseline to provide information on prognosis and treatment options, and to shelter family and child doubts and hopes in order to better support their decisions.

Indexed as

Adrenal Hyperplasia, CongenitalDisorders of Sex DevelopmentChildConsanguinityExonsFemaleHumansInfantMaleMutation, MissenseAmbiguous genitaliaCase reportHSD17B3 deficiencyNovel variantRare disease

Identifiers

PMID35689291
PMCPMC9188102
OpenAlexW4281866664

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.