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Pharmaceuticals
Special Issues
Endocrine Diseases and Pharmacogenomics
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Endocrine Diseases and Pharmacogenomics

A special issue of Pharmaceuticals (ISSN 1424-8247). This special issue belongs to the section "Pharmacology".

Deadline for manuscript submissions: closed (25 April 2026) | Viewed by 1609

Editors

Prof. Dr. Leonidas A. Phylactou

E-Mail Website
Guest Editor
Chief Executive Officer and Medical Director, The Cyprus Institute of Neurology & Genetics, P.O. Box 23462, Nicosia 1683, Cyprus
Interests: RNA biology; regulatory RNA molecules; extracellular vesicles; identification of genetic defects in inherited diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Vassos Neocleous

E-Mail Website
Guest Editor
Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology & Genetics, P.O. Box 23462, Nicosia 1683, Cyprus
Interests: Inherited endocrine disorders; congenital adrenal hyperplasia; puberty; MODY; MEN2; DSD
Special Issues, Collections and Topics in MDPI journals
Dr. Pavlos Fanis

E-Mail Website
Guest Editor
Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology & Genetics, P.O. Box 23462, Nicosia 1683, Cyprus
Interests: congenital adrenal hyperplasia; puberty; GnRH regulation; endocrine disorders; multiple endocrine neoplasia
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The integration of pharmacogenomics into the treatment of endocrine diseases, including Congenital Adrenal Hyperplasia (CAH), Maturity Onset Diabetes of the Young (MODY), Multiple Endocrine Neoplasia Type 2 (MEN2), Pseudohypoparathyroidism (PHP), Thyroid Hormone Resistance (THR), and others, shows significant potential to personalize treatment. This approach aims to optimize the use of clinically relevant drugs and enables personalized therapies for inherited endocrine disorders, improving efficacy and minimizing adverse effects. Despite promising research, much of this field's potential remains unexploited. Many pharmacogenetic findings need validation through large, well-designed clinical trials to confirm their relevance. The complexity of gene–drug interactions and diverse patient populations highlights the need for robust studies to turn discoveries into practical treatments. This Special Issue aims to explore any aspect of the search for endocrine treatments informed by pharmacogenomics. Contributions in the form of opinions, brief reports, communications, research articles, and reviews are welcomed.

Prof. Dr. Leonidas A. Phylactou
Dr. Vassos Neocleous
Dr. Pavlos Fanis
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 submissions that pass pre-check are 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 250 words) can be sent to the Editorial Office for assessment.

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-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Pharmaceuticals is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). 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.

Keywords

  • inherited endocrine disorders
  • pharmacogenomics
  • pharmacogenetics
  • genome sequencing
  • clinical trials

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Published Papers (1 paper)

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Review

15 pages, 3701 KB  
Review
Congenital Adrenal Hyperplasia in the Mediterranean: A Concise Overview
by Pavlos Fanis, Nicos Skordis, Marios Tomazou, Leonidas A. Phylactou and Vassos Neocleous
Pharmaceuticals 2026, 19(5), 741; https://doi.org/10.3390/ph19050741 - 8 May 2026
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Abstract
Background: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders caused by impaired adrenal steroidogenesis, most frequently due to pathogenic variants in the CYP21A2 gene leading to 21-hydroxylase deficiency (21-OHD). Epidemiology and management vary across the Mediterranean Basin as a result [...] Read more.
Background: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders caused by impaired adrenal steroidogenesis, most frequently due to pathogenic variants in the CYP21A2 gene leading to 21-hydroxylase deficiency (21-OHD). Epidemiology and management vary across the Mediterranean Basin as a result of genetic and healthcare differences. Objective: To provide an overview of the epidemiology, diagnostic approaches and treatment patterns of CAH in Mediterranean countries. Methods: A structured review of the literature was performed using PubMed, using combined disease-related, geographic and methodological terms. Eligible studies reporting on epidemiology, diagnosis, or management of CAH were included. Data on study design, population characteristics, incidence, diagnostics, genetics and treatment availability were extracted. Results: Data were collected from 23 Mediterranean and neighboring regions covering over 8.7 million screened newborns. In countries with established newborn screening (e.g., Spain, Italy, France, Greece), the incidence of classic CAH ranged from 1:10,000 to 1:25,000 live births. Higher rates were reported in parts of North Africa and the Eastern Mediterranean. Diagnostic set-up and access to biochemical and genetic confirmation varied widely. Hydrocortisone remains the primary therapy, while access to mineralocorticoids and modified-release glucocorticoids differed across settings. Conclusions: Overall, considerable heterogeneity in CAH epidemiology and care exists across the Mediterranean region. Genetic factors such as founder effects, consanguinity and healthcare organization contribute to these differences. Expanding newborn screening, improving diagnostics and availability to treatments are critical to reducing disparities in CAH care. Full article
(This article belongs to the Special Issue Endocrine Diseases and Pharmacogenomics)
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