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Article

Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.

Journal of clinical immunology - 1 Aug 2017

Cekic Sukru, Saglam Halil, Gorukmez Orhan, Yakut Tahsin, Tarim Omer, Kilic Sara S

Abstract excerpt

PURPOSE: Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene. METHOD: Pubertal development, physical and laboratory findings of one male...

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Source

Identifiers

PMID: 28681255
DOI: 10.1007/s10875-017-0412-8

Genes

HAX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.PMID 28681255Read ↗

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