DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report
LIG4 syndrome should be considered in the differential diagnosis of cases with growth retardation, microcephaly, and gonadal failure. In the literature, there are limited cases reported with gonadal failure in LIG4 syndrome. Here, we emphasize this aspect to highlight its significance.
Authors
- Behiye Sarıkaya Özdemir (ORCID: https://orcid.org/0000-0002-2821-3038)
- Abdullah Sezer (ORCID: https://orcid.org/0000-0003-3886-3808)
- Caner Aytekin (ORCID: https://orcid.org/0000-0002-2921-5270)
- Şenay Savaş Erdeve (ORCID: https://orcid.org/0000-0002-4164-5089)
- Deniz Yaşar (ORCID: https://orcid.org/0000-0003-3403-165X)
- Gülin Karacan Küçükali (ORCID: https://orcid.org/0000-0001-7506-1711)
- Beyhan Özkaya (ORCID: https://orcid.org/0000-0002-4161-2631)
- İclal Okur (ORCID: https://orcid.org/0000-0002-7944-3351)
- Erdal Kurnaz (ORCID: https://orcid.org/0000-0002-1814-3216)
- Aslıhan Araslı Yılmaz (ORCID: https://orcid.org/0000-0003-4403-2381)
- Melikşah Keskın (ORCID: https://orcid.org/0000-0002-2713-3618)
Institutions
- Dr Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-02-15
- DOI
- https://doi.org/10.1515/jpem-2024-0510
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00