Genetics of GH Deficiency: Insights From a Cohort of 203 Patients
This study revealed several novel and recurrent mutations that expand the genetic spectrum of GH deficiency and underscore the genetic heterogeneity of this disorder. A significant proportion of patients remained genetically undiagnosed, suggesting the involvement of additional unknown genetic, epigenetic, or environmental factors. These findings contribute to the understanding of the genetic architecture of GH deficiency and highlight the need for further investigations to elucidate underlying mechanisms and identify additional causative factors.
Authors
- Maria Miguel Gomes (ORCID: https://orcid.org/0000-0002-1728-9387)
- Isabel Dinis (ORCID: https://orcid.org/0000-0003-3948-3727)
- Ana Cláudia Ribeiro (ORCID: https://orcid.org/0000-0002-6581-7594)
- Alexandre Antunes (ORCID: https://orcid.org/0000-0001-9339-3728)
- Valeriano Alberto Pais Horta Leite (ORCID: https://orcid.org/0000-0001-5479-7332)
- Paula Freitas (ORCID: https://orcid.org/0000-0002-8732-8046)
- J Jacome Castro
- Margarida Bastos
- Bernardo Dias Pereira
- Carla Costa (ORCID: https://orcid.org/0000-0002-0027-8462)
- Alice Mirante (ORCID: https://orcid.org/0000-0003-4138-8622)
- Lurdes Lopes (ORCID: https://orcid.org/0000-0003-1216-9279)
- Ana Agapito (ORCID: https://orcid.org/0000-0002-5673-9459)
- Luís R. Saraiva (ORCID: https://orcid.org/0000-0003-4079-0396)
- Sofia Martıns (ORCID: https://orcid.org/0000-0003-3197-1320)
- Najeeb Syed (ORCID: https://orcid.org/0000-0003-0460-5237)
- Catarina Gonçalves (ORCID: https://orcid.org/0000-0001-6659-1200)
- Eduarda Coutinho (ORCID: https://orcid.org/0000-0002-9923-2164)
- Davide Carvalho
- Manuel C. Lemos (ORCID: https://orcid.org/0000-0001-9326-8900)
- Mariana Martinho
- Maria Lurdes Sampaio
- Catarina Limbert (ORCID: https://orcid.org/0000-0002-7455-4538)
- Diana Martins (ORCID: https://orcid.org/0000-0002-1457-8992)
- Carla Mendes Pereira (ORCID: https://orcid.org/0000-0002-2899-9640)
- Luísa Barros (ORCID: https://orcid.org/0000-0002-3077-8310)
- Daniela Amaral
- Henrique Vara Luíz
- Helena Cardoso (ORCID: https://orcid.org/0000-0002-9465-5918)
- Fernando Fonseca
- Rosa Piña
- Conceição Bacelar
- Sandra Paiva
Institutions
- University of Beira Interior (PT)
- Hospitais da Universidade de Coimbra (PT)
- Hospital de São João (PT)
- Yale University (US)
- Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
- Hospital de Dona Estefânia (PT)
- Hospital do Divino Espírito Santo (PT)
- Centro Hospitalar do Tâmega e Sousa (PT)
- Hospital de Santo António (PT)
- Sidra Medical and Research Center (QA)
- Instituto de Saúde (BR)
- Hospital Curry Cabral (PT)
- Hospital Braga (PT)
- Hospital Central de las Fuerzas Armadas (UY)
- Hamad bin Khalifa University (QA)
- Hospital Garcia de Orta (PT)
- Instituto Português de Oncologia de Coimbra Francisco Gentil (PT)
- Hospital de Santa Maria (PT)
- Centro Hospitalar do Porto (PT)
- i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT)
- Unidade Hospitalar de Bragança (PT)
- Health & Life (Taiwan) (TW)
- Hospital das Forças Armadas
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-06-24
- DOI
- https://doi.org/10.1210/clinem/dgaf377
- Primary Topic
- Growth Hormone and Insulin-like Growth Factors
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Qatar Foundation
- Sidra Medicine
- Foundation for Science and Technology