A Little Known but Very Common Phenotype in Patients With Severe Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian Insufficiency
This is the first and largest case series covering early childhood to evaluate patients with HAX1-SCN for gonadal function. It has been observed that pubertal females develop POI, prepubertal females are at increased risk for gonadal failure, and male patients are not affected. Our results suggest that HAX1 has an important role in ovarian maturation and/or function.
Authors
- Sinan Akbayram (ORCID: https://orcid.org/0000-0001-7410-4310)
- Canan Albayrak (ORCID: https://orcid.org/0000-0002-9912-9626)
- Zerrin Orbak (ORCID: https://orcid.org/0000-0002-1847-9844)
- Ahmet Anık (ORCID: https://orcid.org/0000-0002-7729-7872)
- Ayşenur Bahadır (ORCID: https://orcid.org/0000-0001-9226-369X)
- Emine Ayça Cimbek (ORCID: https://orcid.org/0000-0002-7866-9228)
- Yusuf Ziya Aral (ORCID: https://orcid.org/0000-0001-7964-6266)
- Nihal Karadaş (ORCID: https://orcid.org/0000-0002-0019-7347)
- Samim Özen (ORCID: https://orcid.org/0000-0001-7037-2713)
- Ayşegül Ünüvar (ORCID: https://orcid.org/0000-0002-4730-7697)
- Serpil Albayrak (ORCID: https://orcid.org/0000-0003-3368-6451)
- Leyla Akın (ORCID: https://orcid.org/0000-0002-8071-426X)
- Damla Gökşen (ORCID: https://orcid.org/0000-0001-6108-0591)
- Murat Karaoğlan (ORCID: https://orcid.org/0000-0002-2861-3568)
- Deniz Yılmaz Karapınar (ORCID: https://orcid.org/0000-0002-1637-4678)
- Zafer Bıçakçı (ORCID: https://orcid.org/0000-0002-1321-4708)
- Esra Pekpak Şahinoğlu
- Cansu Koç (ORCID: https://orcid.org/0000-0002-8413-8925)
- Deniz Özalp Kızılay (ORCID: https://orcid.org/0000-0003-4529-4404)
- Cem Mete
- Ayşe Gadashova
Institutions
- Karadeniz Technical University (TR)
- Ondokuz Mayıs University (TR)
- Şırnak University (TR)
- Fatih University (TR)
- Ege University (TR)
- Gaziantep Children's Hospital (TR)
- Liv Hospital (TR)
- Gaziantep University (TR)
- Atatürk University (TR)
- Istanbul University (TR)
- Adnan Menderes University (TR)
Publication Details
- Journal
- Pediatric Blood & Cancer
- Published
- 2025-02-21
- DOI
- https://doi.org/10.1002/pbc.31591
- Citations
- 1
- Primary Topic
- Blood disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.82