ECEESPE2025 Poster Presentations Reproductive and Developmental Endocrinology (93 abstracts)
Clinical and genetic overlap between congenital hypogonadotropic hypogonadism and cleft lip and palate
Fernanda De Azevedo Correa 1,2 , Imen Habibi 2 , Jing Zhai 1,2 , Adamo Michela 1,2 , Alexia Boizot 2 , Yassine Zouaghi 1,2 , Anita Rauch 3 , Vera Popovic 4 , Richard Quinton 5 , Marco Bonomi 6 , Waljit Dhillo 7 , Christa Fluck 8 , Georgios Papadakis 1,2 , Nicolas Niederlander 2 & Nelly Pitteloud 2
1Faculty of Biology and Medicine, UNIL, Service d’endocrinologie, diabétologie et métabolisme, Lausanne, Switzerland; 2Service of endocrinology, diabetology and metabolism, CHUV, Lausanne, Switzerland; 3Institute of Medical Genetics, University of Zurich, Zurich, Switzerland; 4Belgrade University School of Medicine, Neuroendocrine Unit, Belgrade, Serbia; 5Department of Endocrinology, Newcastle-upon-Tyne Hospitals, Newcastle, United Kingdom; 6Department of Endocrine and Metabolic Medicine, IRCCS Instituto Auxologico Italiano; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy; 7Section of Endocrinology and Investigative Medicine, Imperial College London, London, United Kingdom; 8Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Bern University Hospital, University of Bern, Bern, Switzerland
JOINT2309
Objective: Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder characterized by absent or incomplete puberty due to deficient gonadotropin-releasing hormone (GnRH) function. A subset of affected individuals present with additional developmental anomalies, including cleft lip and palate (CLP). This study explores the clinical and genetic overlap between CHH and CLP.
Methods: A total of 336 CHH probands were evaluated for CLP. High-throughput sequencing was performed, and variant analysis focused on known CHH and CLP genes.
Results: Twenty-one patients (6%) had CLP. Genetic analysis identified pathogenic (P) or likely pathogenic (LP) variants in genes associated with both conditions (e.g. FGFR1, CHD7). Additionally, 17% of CHH probands without CLP carried deleterious variants in CLP genes (e.g. DVL3, PLCB4, NIPBL and EDNRA). Further, digenic inheritance involving genes from both conditions was observed in 4 cases. FGFR1 was found in digenicity with 3 other genes in 3 patients (e.g. TP63, TGFBR2 and INTS1) and one case involved PNPLA6 and PIEZO2.
Conclusion: These findings support a phenotypic continuum between CHH and CLP with genetic overlap, reinforcing the role of shared developmental pathways. Research into overlapping syndromes may improve diagnostic accuracy and personalized care for affected individuals.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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