Evidence map›Paper›PMID 28215832›Full record

ArticleJournal of pediatric urology2017

Variation in the clinical and genetic evaluation of undervirilized boys with bifid scrotum and hypospadias.

J M Swartz, R Ciarlo, E Denhoff, A Abrha, D A Diamond, J N Hirschhorn, Y-M Chan

Abstract read
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In one paragraph

Article in Journal of pediatric urology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 27% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

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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

7 authors at 1 institution in 1 country.

J M SwartzDepartment of Endocrinology, Boston Children's Hospital, Boston, MA, USA. Electronic address: Jonathan.Swartz@childrens.harvard.edu.
R CiarloDepartment of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
E DenhoffClinical Research Center, Boston Children's Hospital, Boston, MA, USA.
A AbrhaDepartment of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
D A DiamondDepartment of Urology, Boston Children's Hospital, Boston, MA, USA.
J N HirschhornDepartment of Endocrinology, Boston Children's Hospital, Boston, MA, USA; Program in Medical and Population Genetics, Cambridge, MA, USA.
Y-M ChanDepartment of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
Boston Children's Hospital · US

Funding

Harvard Clinical and Translational Science CenterUL1TR001102 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2013 to 2017
$106.2M
Research in Development Endocrinology and MetabolismT32DK007699 · NIDDK · CHILDREN'S HOSPITAL BOSTON · PI JOEL N HIRSCHHORN · 1992 to 2026
$7.1M
Exome Sequencing in Disorders of Sex Development: Impact on Patients and FamiliesR01HD089521 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI CHAN, YEE-MING, HOLM, INGRID ADELE · 2016 to 2020
$841k
NCATS NIH HHS UL1 TR001102NICHD NIH HHS R01 HD089521NIDDK NIH HHS T32 DK007699
6 · The paper itself

Abstract

backgroundBifid scrotum and hypospadias can be signs of undervirilization, yet boys presenting with these findings often do not undergo genetic evaluation. In some cases, identifying an underlying genetic diagnosis can help to optimize clinical care and improve guidance given to patients and families.

objectivesThe aim of this study was to characterize current practice for genetic evaluation of patients with bifid scrotum, and to identify approaches with a good diagnostic yield.

methodsA retrospective study of the Boston Children's Hospital electronic medical records (1993-2015) was conducted using the search term "bifid scrotum" and clinical data were extracted. Data were abstracted into a REDCap database for analysis. Statistical analysis was performed using SPSS, SAS, and Excel software.

resultsThe search identified 110 subjects evaluated in the Urology and/or Endocrinology clinics for bifid scrotum. Genetic testing (including karyotype, microarray, or targeted testing) was performed on 64% of the subjects with bifid scrotum; of those tested, 23% (15% of the total cohort of 110 subjects) received a confirmed genetic diagnosis. Karyotype analysis, when performed, led to a diagnosis in 17% of patients. Of the ten instances when androgen receptor gene sequencing was performed, a pathogenic mutation was identified 20% of the time.

conclusionThis study demonstrated that the majority of individuals with moderate undervirilization resulting in bifid scrotum do not receive a genetic diagnosis. Over a third of the analyzed subjects did not have any genetic testing, even though karyotype analysis and androgen receptor (AR) sequencing were both relatively high yield for identifying a genetic etiology. Increased utilization of traditional genetic approaches could significantly improve the ability to find a genetic diagnosis.

Indexed as

FemaleGenetic TestingHumansHypospadiasInfantMalePatient SelectionRetrospective StudiesScrotumVirilismBifid scrotumDisorders of sex developmentHypospadiasUndervirilization

Identifiers

PMID28215832
PMCPMC5483185
OpenAlexW2582062935

What OpenQuestion holds

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Registered trials

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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.