Article

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

2024-09-20

Abstract excerpt

<h4>Background: </h4> Autosomal recessive severe congenital neutropenia (SCN) has been associated with homozygous variants in the HAX1( HCLS1 Associated Protein X-1) gene. In this rare disease, ovarian insufficiency has been reported only in nine female patients in the literature. There is insufficient data on the gonadal function of patients with SCN due to HAX1 gene variant ( HAX1 -SCN ) in childhood and the...

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Literature Corpus work: 0998c10a-df0f-5e8f-ad33-34e0b2b2ed27
DOI: 10.22541/au.172681934.43919964/v1

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