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hrp0098p1-285 | Sex Endocrinology and Gonads 3 | ESPE2024

A Little Known But Very Common Phenotype in Patients with Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian Failure

Özalp Kızılay Deniz , Yılmaz Karapınar Deniz , Karadaş Nihal , Karaoğlan Murat , Akbayram Sinan , Gökşen Damla , Gadashova Ayşe , Albayrak Serpil , Pekpak Şahinoğlu Esra , Koç Cansu , Ünüvar Ayşegül , Orbak Zerrin , Bıçakçı Zafer , Akın Leyla , Albayrak Canan , Anık Ahmet , Ziya Aral Yusuf , Ayça Cimbek Emine , Bahadır Ayşenur , Mete Cem , Özen Samim

Aim: Homozygous mutations in the HAX1 gene have been described in autosomal recessive severe congenital neutropenia (CN). In this rare disease, ovarian failure has been reported only in 9 female patients in the literature. There is insufficient data on childhood patients with HAX1 deficiency and the age of onset of ovarian failure is unknown. The aim of this cross-sectional study was to evaluate the gonadal functions and pubertal development in paedia...

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A Little Known But Very Common Phenotype in Patients with Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian Failure

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