Evidence map›Paper›PMID 34736502›Full record

Observational studyOrphanet journal of rare diseases2021

Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases.

Wafa Kallali, Claude Messiaen, Roumaisah Saïdi, Soucounda Lessim, Magali Viaud, Jerome Dulon, Mariana Nedelcu, Dinane Samara, Muriel Houang, Bruno Donadille and 8 more

Open access · goldAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Orphanet journal of rare diseases, 2021. 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
0.3field-weighted citation impact, top 43% 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, 4 citations in OpenAlex.

  1. Article
  2. Review
  3. 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

18 authors at 4 institutions in 1 country.

Wafa KallaliPediatric Endocrinology-Diabetology Department, Reference Center for Growth and Development Endocrine Diseases, Robert Debré University Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, 48 Bd Sérurier, 75019, Paris, France. kallaliwafa27@gmail.com.ORCID 0000-0002-4281-8252
Claude MessiaenBanque Nationale de Données Maladies Rares, DSI-I&D, APHP, Paris, France.
Roumaisah SaïdiBanque Nationale de Données Maladies Rares, DSI-I&D, APHP, Paris, France.
Soucounda LessimPediatric Endocrinology-Diabetology Department, Reference Center for Growth and Development Endocrine Diseases, Robert Debré University Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, 48 Bd Sérurier, 75019, Paris, France.
Magali ViaudPediatric Endocrinology, Gynecology and Diabetology Department, Reference Center for Growth and Development Endocrine Diseases, Necker University Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, 75015, Paris, France.
Jerome DulonEndocrinology Department, Reference Center for Growth and Development Endocrine Diseases, La Pitié Salpétrière University Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75013, Paris, France.
Mariana NedelcuEndocrinology Department, Reference Center for Growth and Development Endocrine Diseases, Saint Antoine University Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75012, Paris, France.
Dinane SamaraPediatric Endocrinology, Gynecology and Diabetology Department, Reference Center for Growth and Development Endocrine Diseases, Necker University Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, 75015, Paris, France.
Muriel HouangPediatric Endocrinology Unit, Reference Center for Growth and Development Endocrine Diseases, Trousseau University Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75012, Paris, France.
Bruno DonadilleEndocrinology Department, Reference Center for Growth and Development Endocrine Diseases, Saint Antoine University Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75012, Paris, France.
Carine CourtillotEndocrinology Department, Reference Center for Growth and Development Endocrine Diseases, La Pitié Salpétrière University Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75013, Paris, France.
GianPaolo de FilippoPediatric Endocrinology-Diabetology Department, Reference Center for Growth and Development Endocrine Diseases, Robert Debré University Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, 48 Bd Sérurier, 75019, Paris, France.
Jean-Claude CarelPediatric Endocrinology-Diabetology Department, Reference Center for Growth and Development Endocrine Diseases, Robert Debré University Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, 48 Bd Sérurier, 75019, Paris, France.
Sophie Christin-MaitreEndocrinology Department, Reference Center for Growth and Development Endocrine Diseases, Saint Antoine University Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75012, Paris, France.
Philippe TouraineEndocrinology Department, Reference Center for Growth and Development Endocrine Diseases, La Pitié Salpétrière University Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75013, Paris, France.
Irene NetchinePediatric Endocrinology Unit, Reference Center for Growth and Development Endocrine Diseases, Trousseau University Hospital, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75012, Paris, France.
Michel PolakPediatric Endocrinology, Gynecology and Diabetology Department, Reference Center for Growth and Development Endocrine Diseases, Necker University Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, 75015, Paris, France.
Juliane LégerPediatric Endocrinology-Diabetology Department, Reference Center for Growth and Development Endocrine Diseases, Robert Debré University Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, 48 Bd Sérurier, 75019, Paris, France.
Sorbonne Université · FRUniversité Paris Cité · FRAssistance Publique – Hôpitaux de Paris · FRHôpital Necker-Enfants Malades · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFor chronic congenital endocrine conditions, age at diagnosis is a key issue with implications for optimal management and psychological concerns. These conditions are associated with an increase in the risk of comorbid conditions, particularly as  it concerns growth, pubertal development and fertility potential. Clinical presentation and severity depend on the disorder and the patient's age, but diagnosis is often late.

objectiveTo evaluate age at diagnosis for the most frequent congenital endocrine diseases affecting growth and/or development. PATIENTS AND

methodsThis observational cohort study included all patients (n = 4379) with well-defined chronic congenital endocrine diseases-non-acquired isolated growth hormone deficiency (IGHD), isolated congenital hypogonadotropic hypogonadism (ICHH), ectopic neurohypophysis (NH), Turner syndrome (TS), McCune-Albright syndrome (MAS), complete androgen insensitivity syndrome (CAIS) and gonadal dysgenesis (GD)-included in the database of a single multisite reference center for rare endocrine growth and developmental disorders, over a period of 14 years. Patients with congenital hypothyroidism and adrenal hyperplasia were excluded as they are generally identified during neonatal screening.

resultsMedian age at diagnosis depended on the disease: first year of life for GD, before the age of five years for ectopic NH and MAS, 8-10 years for IGHD, TS (11% diagnosed antenatally) and CAIS and 17.4 years for ICHH. One third of the patients were diagnosed before the age of five years. Diagnosis occurred in adulthood in 22% of cases for CAIS, 11.6% for TS, 8.8% for GD, 0.8% for ectopic NH, and 0.4% for IGHD. A male predominance (2/3) was observed for IGHD, ectopic NH, ICHH and GD.

conclusionThe early recognition of growth/developmental failure during childhood is essential, to reduce time-to-diagnosis and improve outcomes.

Indexed as

Androgen-Insensitivity SyndromeEndocrine System DiseasesGonadal DysgenesisAdultChild, PreschoolCohort StudiesHumansInfant, NewbornMaleRare DiseasesCohortCongenital endocrine diseaseDiagnosisFemaleMale

Identifiers

PMID34736502
PMCPMC8567586
OpenAlexW3209605761

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.