Expanded Targeted-Exome Sequencing and Functional Validation Improve Molecular Diagnosis and Refine Genotype-Phenotype Correlations in Congenital Hypogonadotropic Hypogonadism
Our findings demonstrate the utility of a next-generation sequencing panel in diagnosing genetically complex conditions like CHH and underscore the role of oligogenic inheritance in its phenotypic diversity. The inclusion of genes previously associated with syndromic CHH forms such as CHARGE in the exome panel may highlight possible shared mechanisms with neurodevelopmental disorders, aiding early diagnosis, genetic counseling, and treatment.
Authors
- Silvia R. Correa‐Silva (ORCID: https://orcid.org/0000-0003-2405-0013)
- Elisa Napolitano Ferreira (ORCID: https://orcid.org/0000-0001-7809-7349)
- Ilda S. Kunii (ORCID: https://orcid.org/0000-0001-7945-9866)
- Maria Izabel Chiamolera (ORCID: https://orcid.org/0000-0002-9606-2841)
- Magnus R. Dias‐da‐Silva (ORCID: https://orcid.org/0000-0002-8516-966X)
- Lucas G. A. Ferreira (ORCID: https://orcid.org/0000-0003-1043-6900)
- Jessica Silva Fausto
Institutions
- Fleury S.A. (Brazil) (BR)
- Associação Paulista de Medicina (BR)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Neuroendocrinology
- Published
- 2025-09-09
- DOI
- https://doi.org/10.1159/000548348
- Primary Topic
- Hypothalamic control of reproductive hormones
- Type
- article
- Field-Weighted Citation Impact
- 0.00