Molecular Studies on Prader–Willi Syndrome and Other Causes of Hypogonadism
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".
Deadline for manuscript submissions: closed (31 March 2022) | Viewed by 10316
Special Issue Editor
Interests: neonatal diabetes mellitus; type 1 diabetes; celiac disease; thyroid disorders; insulin; Wolfram syndrome; Prader Villino syndrome
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Special Issue Information
Dear Colleagues,
Prader-Willi syndrome is the most frequent cause of genetic obesity featuring short stature, intellectual disability, and hypothalamus disorders. It is quite heterogeneous from the clinical point of view and it is caused by a defect in the paternal 15q11-q13 region. Over the last 2 decades, the clinical management of these patients has been greatly improved and the prognosis is much more better than in the past. Notwithstanding, studies about molecular genetics about this syndrome are welcome to increase the knowledge of the pathogenic mechanisms and to allow the researchers to evaluate novel therapeutic approaches. Among the other characteristics, patient with Prader-Willi syndrome usually feature hypogonadism. Hypogonadism in subjects without Prader-Willi syndrome may be due to chromosomal abnormalities or genetic disorders. These patients may present additional clinical features that can drive the prioritization of genetic screening and reduce expenses and time wasted. A correct molecular diagnosis improves management and genetic counseling and thus expanding the knowledge of the etiological mechanisms is fundamental for researchers and clinicians. Aneuploidy is the most frequent cause of hypogonadism, characterized by gonadal dysgenesis and growth disorders. A growing list of involved genes is currently available, with a well-defined phenotype for most of them.
This special Issue aims to collect papers on molecular studies in patients with Prader-Willi syndrome or in patients with apparent idiopathic hypogonadism, to increase the knowledge of these disorders to prompt further researches for those with a special interest in the field.
Dr. Maurizio Delvecchio
Guest Editor
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Keywords
- Prader-Willi syndrome
- Hypogonadism
- Gonadal dysgenesis
- Hypopituitarism
- Aneuploidy
- Kallman syndrome
- Turner syndrome
- Klinefelter syndrome
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