Evidence map›Paper›PMID 30591909›Full record

ArticleCase reports in women's health2019

Phenotypic variations in X chromosome mutations: Two case reports.

Josette C Dawkins, Olivia Carpinello, Micah Hill, Alan H DeCherney

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

Article in Case reports in women's health, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 87% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

4 authors at 2 institutions in 1 country.

Josette C DawkinsDepartment of Obstetrics and Gynecology, Rochester Regional Health, USA.
Olivia CarpinelloProgram in Reproductive Endocrinology and Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
Micah HillProgram in Reproductive Endocrinology and Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
Alan H DeCherneyProgram in Reproductive Endocrinology and Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
Eunice Kennedy Shriver National Institute of Child Health and Human Development · USUnity Health System · US

Funding

Reproductive Endocrinology And Infertility Clinical Training ProgramZIEHD008737 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI HILL, MICAH · 2011 to 2025
$24.0M
6 · The paper itself

Abstract

Turner syndrome (TS) affects 1 in 2500 females. Monosomy X is the most common etiology, classically presenting with hypoestrogenemia and short stature. We present two cases of partial X chromosome deletions that do not reflect the typical phenotype of TS. Patient 1 presented at age 17 with primary amenorrhea, cognitive delay and tall stature. Patient 2 presented at age 16 with primary amenorrhea, normal intelligence and average stature. Patient 1's karyotype revealed isodicentric X chromosome [46 X, idic(X)(q21)]. Patient 2's karyotype revealed [46 X,del(X)(q13.3)]. The stature of these patients was not affected. Estrogen therapy was required to provide secondary sexual changes promote bone health. Advances in technology and reproductive health provide an opportunity to make more specific recommendations for patients previously mistakenly diagnosed with TS.

Indexed as

Turner variantX chromosome mutation

Identifiers

PMID30591909
PMCPMC6305762
OpenAlexW2900057644

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.