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Special Issue "Puberty and Its Disorders: From Neuro-Regulation of Puberty Onset to Molecular Basis and Management of Pubertal Disorders"

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 August 2021).

Special Issue Editors

Dr. Silvano Bertelloni
E-Mail Website
Guest Editor
Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy
Interests: disorders/differences of sex development (DSD); children with DSD; testis function; puberty; bone health; hormonal substitutive therapy
Special Issues and Collections in MDPI journals
Prof. Dr. Marek Niedziela
E-Mail Website
Guest Editor
Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland
Dr. Rodolfo Rey
Guest Editor
Director, Centro de Investigaciones Endocrinológicas "Dr César Bergadá" (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina. Professor of Histology, Cell Biology, Embryology and Genetics, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.
Interests: basic and clinical aspects of the gonadal axis during pre- and postnatal development

Special Issue Information

Dear Colleagues,

Puberty is a complex physiological process, driving the passage from childhood to adulthood. It is characterized by the development of secondary sexual characteristics, increase in growth velocity, achievement of adult height, deep changes in neuropsychological development. The ultimate goal of this process is to reach full reproductive function, adult dimorphic physical features and maturity of thought.

Puberty depends on the interrelated role of “in utero” developmental programming, genetic factors, endocrine function and environmental issues (including nutrition and health status). Several pubertal disorders are due to genetic variants acting in the hypothalamus, pituitary and gonads. Abnormal pubertal development (both precocious or delayed puberty) can cause significant distress to the patient, and in some instances, may be a sign of life-threatening pathology or may deeply affect long-term quality of life. Health care providers require knowledge of the normal onset of timing and rate of progression of puberty, and they must be able to—at least—identify patients with abnormal pubertal development to be sent to appropriate specialist care.

The aim of the present Special Issue is to provide an overview of some issues related to minipuberty, physiology of puberty, the etiology and early recognition of delayed and precocious pubertal disorders. Current available treatments will be also addressed. Thus, this Special Issue will be a quality and updated resource for both researchers and clinicians involved in the fields of reproduction, neurodevelopment, pediatric and adolescent endocrinology, as well as gynecology.

This Special Issue that will be covered include, but are not restricted to:

  • The genetic control of the onset of puberty
  • Epigenetic interferences on the onset of puberty
  • The molecular basis of central programming of reproductive axis in early life: its role on puberty timing
  • Environmental clues affecting puberty onset
  • Gut hormones and puberty
  • Endocrine disrupters and puberty
  • Puberty and the brain
  • The genetic and endocrine control of pubertal growth spurt: implications for management of endocrine pediatric diseases
  • Puberty in nutritional disorders
  • Puberty and chronic diseases
  • Genetics of hypogonadotropic hypogonadism
  • Genetics of hypergonadotropic hypogonadism
  • Genetics of autonomous gonadal activation
  • Genetics of central precocious puberty
  • Antimullerian hormone in the diagnosis and follow-up of pubertal disorders
  • The molecular basis of minipuberty: its relevance in diagnosis and treatment of pubertal disorders
  • Growth hormone/IGF1 axis and puberty
  • Molecular basis of GnRH analogs treatment in central precocious puberty
  • Genomics and non-genomic action of sex steroid therapy in puberty disorders
  • Treatment of central and peripheral hypogonadisms
  • Treatment of central precocious puberty

Dr. Silvano Bertelloni
Prof. Dr. Marek Niedziela
Dr. Rodolfo Rey
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers

There is no accepted submissions to this special issue at this moment.
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