Evidence map›Paper›PMID 27307783›Full record

ArticleInternational journal of pediatric endocrinology2016

46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing.

Chelsey Grimbly, Oana Caluseriu, Peter Metcalfe, Mary M Jetha, Elizabeth T Rosolowsky

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

Article in International journal of pediatric endocrinology, 2016. 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
0.9field-weighted citation impact, top 24% 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, 10 citations in OpenAlex.

  1. Article
  2. Review
  3. Genetics of Disorders of Sex Development: The DSD-TRN Experience.Endocrinology and metabolism clinics of North America · 2017
    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

5 authors at 2 institutions in 1 country.

Chelsey GrimblyDivision of Endocrinology, Department of Pediatrics, University of Alberta, Edmonton Clinic Health Academy, 11405- 87th Ave., Edmonton, AB T6G 1C9 Canada.
Oana CaluseriuDepartment of Medical Genetics, University of Alberta, 8-39 Medical Sciences Building, 8613 114 St., Edmonton, AB T6G 2H7 Canada.
Peter MetcalfeDivision of Pediatric Urology, Department of Pediatric Surgery, University of Alberta, 2C3.79 WC Mackenzie Health Sciences Centre, Edmonton, AB T6G 2R7 Canada.
Mary M JethaDivision of Endocrinology, Department of Pediatrics, University of Alberta, Edmonton Clinic Health Academy, 11405- 87th Ave., Edmonton, AB T6G 1C9 Canada.
Elizabeth T RosolowskyDivision of Endocrinology, Department of Pediatrics, University of Alberta, Edmonton Clinic Health Academy, 11405- 87th Ave., Edmonton, AB T6G 1C9 Canada.
University of Alberta · CAHealth Sciences Centre · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is a rare cause of disorder of sex development (DSD) due to impaired conversion of androstenedione to testosterone. Traditionally, the diagnosis was determined by βHCG-stimulated ratios of testosterone:androstenedione < 0.8. CASE PRESENTATION: An otherwise phenotypically female infant presented with bilateral inguinal masses and a 46,XY karyotype. βHCG stimulation (1500 IU IM for 2 days) suggested 17βHSD3 deficiency although androstenedione was only minimally stimulated (4.5 nmol/L to 5.4 nmol/L). Expedient genetic testing for the HSD17B3 gene provided the unequivocal diagnosis.

conclusionWe advocate for urgent genetic testing in rare causes of DSD as indeterminate hormone results can delay diagnosis and prolong intervention.

Indexed as

17β-hydroxysteroid dehydrogenase type 3 deficiency46,XY undervirilizationDisorders of sex development

Identifiers

PMID27307783
PMCPMC4908721
OpenAlexW2407676909

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.