Doctoral research on rare reproductive disorder presented at ENEA 2026

Research arising from doctoral work carried out at the Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, was presented at ENEA 2026, the European Congress on Neuroendocrine Diseases, held at Sorbonne Université in Paris from 9 to 12 September 2026.

Dr Clayton John Axiak gave an oral communication titled “Integrating genomics, hormone measurements and functional validation in idiopathic hypogonadotropic hypogonadism: insights from a Maltese cohort”. Dr Axiak was also a recipient of an ENEA Young Investigator Award, providing further recognition of the research presented at the international congress.

The presentation brought together findings from his doctoral research investigating the genetic basis of idiopathic hypogonadotropic hypogonadism (IHH) in the Maltese population. IHH is a rare disorder characterised by delayed or absent puberty resulting from impaired reproductive hormone signalling and can lead to infertility if left untreated.

The study identified considerable genetic heterogeneity among the Maltese cases investigated, including a founder variant which is more common in the Maltese than elsewhere and novel variants in key receptors involved in the regulation of reproductive function.  Laboratory-based functional studies confirmed that these genetic changes ablate the signalling of these key receptors resulting in infertility.

Presentation of the completed body of work at ENEA 2026 therefore represented a further stage in the international dissemination of this research, bringing findings generated from the Maltese population directly to a specialist audience of researchers and clinicians working in neuroendocrinology.

The work demonstrates how research conducted on a relatively small and previously understudied population can contribute to the wider understanding of the genetic complexity of rare reproductive disorders. Such studies may ultimately contribute towards improved molecular diagnosis and a better understanding of the biological mechanisms underlying IHH.

The doctoral research was carried out under the supervision of Prof. Rosienne Farrugia at the Department of Applied Biomedical Science, Faculty of Health Sciences. The wider research involved Prof. Josanne Vassallo, Consultant Endocrinologist and main collaborator was also present at ENEA 2026, Prof. Mark Gruppetta, Adrian Pleven, Francesca Borg Carbott, Dr Ritienne Attard, Dr Karen Cassar, and Prof. Stephanie Bezzina Wettinger, together with collaborators from Prof. Livio Casarini’s team at the University of Modena and Reggio Emilia, Italy.

This work was supported by the Malta NGS project (Xjenza Malta R&I-2012-024), the Genomics of Rare Diseases project (I21LU04, a UM research excellence grant), TRIALECT, and the Tertiary Education Scholarships Scheme (TESS).

For further information about genomic studies of rare diseases, please contact Prof. Rosienne Farrugia.