4.4 Article

X-linked recessive Kallmann syndrome: A case report

期刊

WORLD JOURNAL OF CLINICAL CASES
卷 10, 期 25, 页码 8990-8997

出版社

BAISHIDENG PUBLISHING GROUP INC
DOI: 10.12998/wjcc.v10.i25.8990

关键词

X-linked recessive Kallmann syndrome; Gonadotropin-releasing hormone; Hormone replacement therapy; Diagnosis; Treatment; Case report

资金

  1. National Natural Science Foundation of China [81860265]
  2. Special Foundation for Discipline Leaders of High-level Health Technical Talents in Yunnan Province [D-2018035]

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Kallmann syndrome is a rare genetic disorder characterized by delayed puberty and infertility. This article reports a case of a 26-year-old male with the syndrome, who showed improvement in hormone levels after treatment with pulsatile GnRH subcutaneous therapy by pump.
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 it. It occurs in both males and females and has the additional symptoms of hypogonadism and almost invariably infertility. The condition has a low prevalence that is estimated to be 1 in 4000 for male HH cases overall and 1:50000 for KS. It is three to five times more common in males than females. Whether 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 established. CASE SUMMARY This article reports a 26-year-old male presenting with delayed puberty. The synthetic decapeptide luteinizing hormone-releasing hormone stimulation test showed that the secretion levels of follicle-stimulating hormone and luteinizing hormone were delayed. The eigengenes commonly associated with idiopathic HH (IHH) were screened, and an X-linked recessive (KAL-1) mutation was found. His 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 conducted. CONCLUSION KS is caused by a KAL-1 mutation that follows an X-linked recessive inheritance pattern. Pulsatile GnRH subcutaneous therapy by pump was effective in this patient.

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