Annual Report 2022


During its 49 years of existence, the CEDIE has been the training and developing house of several generations of researchers who have left their trade on national and international endocrinology.

The achievements of the CEDIE - FEI - Endocrinology Division of the HNRG interaction can be highlighted as examples:

1) High-impact publications, such as the discovery of 2 new causes of short stature in children and adolescents due to mutations in the STAT5B and IGFALS genes, scientific work worthy of publication in The New England Journal of Medicine; or the discovery of the genetic cause of IMAGe syndrome due to mutation of the CDKN1C gene published in Nature Genetics.

Many CEDIE members have served as consulting editors and authors for book chapters, as well. To name some of them: “Endocrinology” by DeGroot and Jameson, “Greenspan's Basic and Clinical Endocrinology”, “Maternal-Fetal and Neonatal Endocrinology”, “Treatise of Pediatric Endocrinology” by Pombo-Arias, “Treatise of Pediatrics” by Meneghello and “The Leydig cell” by Russell, Hardy, and Payne, “Molecular Physiopathology and Endocrinological Clinic”  and “Human Embryology” by Flores.

2) In the last 10 years, CEDIE’s highly qualified academic spirit promoted internationally well-trained and recognized human resources as it is endorsed by 24 and 12 doctoral and master theses, respectively, 28 MDs specialized in pediatric endocrinology or endocrine biochemistry and numerous other professionals and technicians supporting the research and healthcare tasks. Many of the outstanding professionals trained and the Division of Endocrinology lead today other endocrinology centers in Argentina and the world (such as Drs. Marco Rivarola and Alicia Belgorosky, pioneers of the Endocrinology division and the research laboratory at the J. P Garrahan Children’s Hospital in  Buenos Aires, and Dr. Saúl Malozowski at the NIH in the United States).

3) Each year, about 12,000 medium-high complexity medical consultations are received from children and adolescents having endocrinological concerns. In addition, around 60,000 hormonal determinations and studies are carried out. On the other hand, a permanently growing neonatal screening program is provided to early detect endocrine and metabolic diseases in newborns. The anatomy pathology area focuses on endocrine and reproductive conditions, and the cytogenetics and molecular biology areas yield approximately 500 diagnoses. All of this is possible thanks to close interaction between clinical specialists and basic researchers from different areas of Endocrinology.

4) Every year, through its professionals,  the CEDIE and the Division of Endocrinology are honored as guest speakers in more than 100 national meetings and symposiums and 30 international meetings, symposiums, and conferences. Researchers from the CEDIE-Division of Endocrinology are lead members in postgraduate careers in the field, such as the Paediatric Endocrinology career at the University of Buenos Aires (UBA).


Immediate application of biomedical research products

The operation of a research center within a public hospital contributes to close interaction in the care of patients with endocrine disorders, as it has prompted the development of basic and clinical research programs and, has allowed the development of translational medicine resulting in better patient care due to the incorporation of the most modern scientific criteria in the diagnosis, treatment, and prevention of numerous diseases. It also provides the foundations for research on humans, a very rare occurrence in our environment and abroad, always under strict ethical standards that ensure confidentiality and rigorous respect for patients' rights. As a consequence of their activity, the CEDIE’s work generated two types of outcomes:

1. Scientific production:

In recent years, the publication of 155 articles in indexed international scientific journals, the authorship of 1 book and 27 book chapters in the field, and the presentation of 261 scientific works at national or international conferences. CEDIE’s professional team has been pleased to give more than 250 conferences at the local, regional, and international levels, thus disseminating its scientific production.

2. Services:

Human resources training courses and activities:

In the last 5 years, CEDIE and the Division of Endocrinology’s professionals have contributed to more than 500 postgraduate classes, 200 workshops, 250  seminars training the critical reading of the literature, and the academic training of 5 and 12 fellows in Paediatric Endocrinology depending on Buenos Aires city  Government and University of Buenos Aires’s programs, respectively.

Technological services:

15 high-level technological services (STAN) recognized by CONICET are provided, reaching up to 12,500 determinations (mainly focused on hormonal testing and genetic analysis) delivered to the community in the last 5 years. The CEDIE has been a pioneer and reference center in the development of diagnostic techniques for assessing neuroendocrine tumors and AMH for the diagnosis of hypogonadism in childhood and adolescence and ovarian follicular reserve, a determination today routinely used in assessing infertility concerns.


* Top panel: Tumour development for P138R and L163RpVHL variants: Arrow points toward a tumour; the macroscopic and microscopic aspects of the tumours are also shown.


Lower panel: 3D structures of the VBC complex with pVHL:HIF-1a and pVHL:EloC interfaces where the variants are located in circles and show relevant residues. In silico studies showed both shape reorganization and surface electrostatic potential in pVHL variants.


Cite: Mathó C, Fernández MC, Bonanata J, Liu XD, Martin A, Vieites A, Sansó G, Barontini M, Jonasch E, Coitiño EL, Pennisi PA. VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions. Front Endocrinol (Lausanne). 2022 Mar 21;13:854365. doi: 10.3389/fendo.2022.854365. PMID: 35388293; PMCID: PMC8978939.65