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x-linked recessive kallmann syndrome:A case report

World Journal of Clinical Cases 2022年第25期10卷 8990-8997页

作者： Ping Zhang Jing-Yun Fu Division of Endocrinology The First Affiliated Hospital of Kunming Medical UniversityKunming 650031Yunnan ProvinceChina

BACKGROUND kallmann syndrome(KS),also known as hypogonadotropic hypogonadism(HH)or olfactory-gonadal dysplasia,is a genetic condition in which the primary symptom is a failure to begin puberty or a failure to fully complete *** occurs in both males and females and has the additional symptoms of hypogonadism and almost invariably *** condition has a low prevalence that is estimated to be 1 in 4000 for male HH cases overall and 1:50000 for *** is three to five times more common in males than *** this is a true sex imbalance or a reflection of how difficult KS/HH is to diagnose correctly in males vs females has yet to be fully *** SUMMARY This article reports a 26-year-old male presenting with delayed *** synthetic decapeptide luteinizing hormone-releasing hormone stimulation test showed that the secretion levels of follicle-stimulating hormone and luteinizing hormone were *** eigengenes commonly associated with idiopathic HH(IHH)were screened,and an x-linked recessive(KAL-1)mutation was *** gonadotropin and testosterone levels increased significantly after pulsatile gonadotropin-releasing hormone(GnRH)subcutaneous therapy by pump.A relevant literature review on the recent advances in the diagnosis and treatment of KS and genetic counseling was *** KS is caused by a KAL-1 mutation that follows an x-linked recessive inheritance *** GnRH subcutaneous therapy by pump was effective in this patient.

关键词： x-linked recessive kallmann syndrome Gonadotropin-releasing hormone Hormone replacement therapy Diagnosis Treatment Case report

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