Genetic conditions of short stature: A review of three classic examples.

Adult Child Humans Transition to Adult Care Prader-Willi Syndrome / diagnosis
Noonan syndrome Prader-Willi syndrome Turner syndrome genetics growth hormone short stature

Journal

Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782

Informations de publication

Date de publication:
2022
Historique:
received: 04 08 2022
accepted: 20 09 2022
entrez: 7 11 2022
pubmed: 8 11 2022
medline: 9 11 2022
Statut: epublish

Résumé

Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. Each disorder has been recognized for several decades and is backed by extensive published literature describing its features, genetic origins, and optimal treatment strategies. These disorders are accompanied by a multitude of comorbidities, including cardiovascular issues, endocrinopathies, and infertility. Diagnostic delays, syndrome-associated comorbidities, and inefficient communication among the members of a patient's health care team can affect a patient's well-being from birth through adulthood. Insufficient information is available to help patients and their multidisciplinary team of providers transition from pediatric to adult health care systems. The aim of this review is to summarize the clinical features and genetics associated with each syndrome, describe best practices for diagnosis and treatment, and emphasize the importance of multidisciplinary teams and appropriate care plans for the pediatric to adult health care transition.

Identifiants

DOI: 10.3389/fendo.2022.1011960 PMID: 36339399 PMC: PMC9634554
pubmed: 36339399
doi: 10.3389/fendo.2022.1011960
pmc: PMC9634554
doi:

Types de publication

Journal Article Review Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1011960

Informations de copyright

Copyright © 2022 Butler, Miller, Romano, Ross, Abuzzahab, Backeljauw, Bamba, Bhangoo, Mauras and Geffner.

Déclaration de conflit d'intérêts

AR is a speaker and consultant for Novo Nordisk and a consultant for Ascendis Pharma. JR is a consultant and has research support from Novo Nordisk and is a consultant with OPKO. MA receives research support from Ascendis, Levo, Lumos, Novo Nordisk, Rhythm, and Soleno. MA has been on advisory boards for Pfizer and Rhythm. PB has been a consultant for Novo Nordisk, Novartis/Sandoz, Tolmar, Ascendis Pharma, BioMarin, Cavalry Bioventures, and Ipsen, and currently receives research support from Novo Nordisk and Ipsen. NM has received institutional research grants from Novo Nordisk and OPKO and has received consulting fees from Agios. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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Auteurs

Merlin G Butler (MG)

Department of Psychiatry & Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS, United States.
Department of Pediatrics, University of Kansas Medical Center, Kansas City, KS, United States.

Bradley S Miller (BS)

Pediatric Endocrinology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, United States.

Alicia Romano (A)

Department of Pediatrics, New York Medical College, Valhalla, NY, United States.

Judith Ross (J)

Department of Pediatrics, Nemours Children's Health, Wilmington, DE, United States.
Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States.

M Jennifer Abuzzahab (MJ)

Diabetes and Endocrine Center, Children's Minnesota, Saint Paul, MN, United States.

Philippe Backeljauw (P)

Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, United States.

Vaneeta Bamba (V)

Division of Endocrinology, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.

Amrit Bhangoo (A)

Pediatric Endocrinology, Children's Health of Orange County (CHOC) Children's Hospital, Orange, CA, United States.

Nelly Mauras (N)

Division of Endocrinology, Nemours Children's Health, Jacksonville, FL, United States.

Mitchell Geffner (M)

The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA, United States.
Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Genetic conditions of short stature: A review...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Genetic conditions of short stature: A review...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic conditions of short stature: A review...
questionsmedicales.fr › Administration des services de santé › Gestion des soins aux patients › Services de santé polyvalents › Soins de santé primaires › Continuité des soins › Transition aux soins pour adultes › Genetic conditions of short stature: A review...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Troubles nutritionnels › Surnutrition › Syndrome de Prader-Willi › Genetic conditions of short stature: A review...