Special Issue

Topic: Prader-Willi Syndrome: Clinical, Genetic, and Endocrine Research

A Special Issue of Rare Disease and Orphan Drugs Journal

ISSN 2771-2893 (Online)

Submission deadline: 15 Nov 2024

Guest Editor(s)

Prof. Maurizio Delvecchio, PhD
Department of Applied Clinical and Biotechnological Sciences, Università dell'Aquila, L'Aquila, Italy.
Prof. Phillip D.K. Lee, MD
Director, Division of Pediatric Endocrinology, Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA.

Special Issue Introduction

Prader-Willi syndrome is a rare and complex disorder that affects several body systems. It is the most common cause of genetic obesity, affecting approximately 1 in 20,000-30,000 live births. The syndrome arises from different genetic mechanisms leading to the loss of expression of the genes inherited from the father on chromosome 15q11.2-q13. Deletion, maternal uniparental disomy, or imprinting defect are possible triggers for the disorder. This region contains genes pivotal for growth processes, neurodevelopment, and hormonal regulation.

The correlation between genotype and phenotype in PWS remains unclear so far, as none of the genes in the PWS region have been specifically implicated in the syndrome individually. However, it is likely that these genes contribute, to different extents, to certain aspects of the phenotype. Thanks to advancements in molecular genetic testing and increased awareness of the disease, early diagnosis during the neonatal period is now commonplace.

Characteristic clinical presentations become more apparent in adulthood. In infants, major symptoms include severe muscle weakness, weak crying, lethargy, feeding difficulty leading to failure to thrive, and hypogenitalism. After infancy, individuals with PWS display hyperphagia, a strong desire for food, often resulting in severe obesity along with various related complications such as impaired glucose metabolism, type 2 diabetes mellitus, fatty liver, dyslipidemia, hypertension, metabolic syndrome, and cardiovascular disease unless food intake is controlled. Hyperphagia, a hallmark of the syndrome, is not fully understood, and controlling appetite presents a challenge in patient management. Clinical manifestations involve a complex dysregulation of the hypothalamus, affecting both the adeno- and neurohypophysis. To date, a range of clinical phenotypes have been reported in patients, with no specific correlation identified with a specific genotype.

This Special Issue aims to collect high-quality papers about Prader-Willi, with a particular focus on the endocrine features of the syndrome.

Submission Deadline

15 Nov 2024

Submission Information

For Author Instructions, please refer to https://www.oaepublish.com/rdodj/author_instructions
For Online Submission, please login at https://oaemesas.com/login?JournalId=rdodj&IssueId=rdodj240429
Submission Deadline: 15 Nov 2024
Contacts: Stella Wang, Assistant Editor, assistant_editor@rdodjournal.com

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Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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