Evidence map›Paper›PMID 27631333›Full record

ArticlePituitary2016

Childhood acromegaly due to X-linked acrogigantism: long term follow-up.

Rebecca J Gordon, Jennifer Bell, Wendy K Chung, Raphael David, Sharon E Oberfield, Sharon L Wardlaw

Open access · greenAbstract readCase Reports
In one paragraph

Article in Pituitary, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
3.2field-weighted citation impact, top 8% 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

11 citing papers in PubMed, 30 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Approach of Acromegaly during Pregnancy.Diagnostics (Basel, Switzerland) · 2022
    Review
  6. Genetics of Acromegaly and Gigantism.Journal of clinical medicine · 2021
    Review
  7. Review
  8. Potential markers of disease behavior in acromegaly and gigantism.Expert review of endocrinology & metabolism · 2020
    Review
  9. Article
  10. The causes and consequences of pituitary gigantism.Nature reviews. Endocrinology · 2018
    Review
  11. 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

6 authors at 2 institutions in 1 country.

Rebecca J GordonDepartment of Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Jennifer BellDepartment of Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Wendy K ChungDepartment of Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Raphael DavidDepartment of Pediatrics, New York University School of Medicine, New York, NY, USA.
Sharon E OberfieldDepartment of Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Sharon L WardlawDepartment of Medicine, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY, 10032, USA. sw22@cumc.columbia.edu.
Columbia University · USNew York University · US

Funding

Training Grant in Pediatric Endocrinology, Diabetes and MetabolismT32DK065522 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SHARON E. OBERFIELD · 2005 to 2026
$4.6M
NIDDK NIH HHS T32 DK065522
6 · The paper itself

Abstract

purposeAcromegaly in infancy is extremely rare. We describe a 32 year old woman who presented at 6 months of age with isolated macrocephaly, followed by accelerated linear growth. At 21 months of age, her head circumference was 55 cm (+5.5 SD), height was 97.6 cm (+4.4 SD) and weight was 20.6 kg (+6.2 SD). She had markedly elevated levels of growth hormone (GH) (135 ng/ml), IGF-1 (1540 ng/ml) and prolactin (370 ng/ml). A pituitary macroadenoma was surgically resected. Immunohistochemical staining was positive for GH. Post-operatively, she developed ACTH and TSH deficiency and diabetes insipidus.

methodsLong term clinical follow-up and genetic testing with chromosomal microarray analysis.

resultsDespite GH deficiency, she grew well until 7 ½ years old, with subsequent decline in growth velocity, and received GH therapy for 5 years. Puberty was initiated with estrogen therapy. As an adult, she has no stigmata of acromegaly, with a height of 164.5 cm and non-acromegalic features. IGF-1 has remained in the low normal range. Prolactin has been mildly elevated. Serial MRIs have shown no evidence of tumor recurrence. She receives replacement therapy with hydrocortisone, levothyroxine and DDAVP. Chromosomal microarray analysis revealed that she has X-linked acrogigantism (X-LAG) due to a de novo duplication of Xq26.3 (516 kb). She recently became pregnant following ovarian stimulation and chorionic villus sampling revealed that she is carrying a male with the same duplication.

conclusionThis report provides detailed long term clinical follow-up of a patient with X-LAG syndrome.

Indexed as

AcromegalyAdenomaAdultFemaleGene DuplicationGenetic Diseases, X-LinkedGrowth Hormone-Secreting Pituitary AdenomaHumansInfantPregnancyAcromegalyPediatricsPituitary adenomaX-linked acrogigantism syndrome

Identifiers

PMID27631333
PMCPMC5244823
OpenAlexW2508085068

What OpenQuestion holds

Textmetadata
LicenceTDM
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.