Evidence map›Paper›PMID 39372827›Full record

ArticleAACE clinical case reports

Noonan Syndrome and Celiac Disease in an Adolescent With Short Stature and Delayed Puberty.

Justin Lee, Sabitha Sasidharan Pillai, Avani Ganta, Chanika Phornphutkul, Jose Bernardo Quintos

Abstract readCase Reports
In one paragraph

Article in AACE clinical case reports. 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
–field-weighted citation impact
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.

  1. Noonan syndrome withTranslational pediatrics · 2025
    Article
  2. 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

5 authors.

Justin LeeDepartment of Biology, Brown University, Providence, Rhode Island.
Sabitha Sasidharan PillaiDivision of Pediatric Endocrinology and Diabetes, Rhode Island Hospital/Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, Providence, Rhode Island.
Avani GantaDivision of Pediatric Endocrinology, Southern Illinois University School of Medicine, Springfield, Illinois.
Chanika PhornphutkulDivision of Genetics and Metabolism, Rhode Island Hospital/Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, Providence, Rhode Island.
Jose Bernardo QuintosDivision of Pediatric Endocrinology and Diabetes, Rhode Island Hospital/Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, Providence, Rhode Island.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background/Objective: We present an adolescent male with Noonan syndrome (NS) and celiac disease (CD) who attained normal adult height with growth hormone (GH) treatment and gluten-free diet (GFD). Case Report: A 15 ½ year old healthy male presented with short stature and delayed puberty. His mother and maternal grandmother were short with heights 142.2 cm and 147.3 cm, respectively. Examination showed bilateral epicanthal folds and down slanting eyes like his mother, fifth finger clinodactyly, height 147.5 cm (<1%; standard deviation score, -2.96), growth velocity 2.5 cm/y, weight 48.2 kg (11%; standard deviation score, -1.24), Tanner 2 pubic hair and Tanner 1 genitalia. Midparental target height was 169.1 cm. He had normal screening studies for GH deficiency and thyroid disorders, prepubertal gonadotropins and testosterone levels, and normal total immunoglobulin A, and elevated antitissue transglutaminase immunoglobulin A 134.7units/mL (0-20). Bone age was 13 years. Genetic evaluation revealed heterozygous missense variant of Discussion: Coexistence of NS caused by Conclusion: NS and CD can co-occur and addressing both these disorders can help patients attain normal height potential.

Indexed as

BRAF mutationceliac diseasegluten-free dietgrowth hormoneNoonan syndrome

Identifiers

PMID39372827
PMCPMC11447532

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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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 Socratic graph.