Zhang Ping, Fu Jing-Yun
Division of Endocrinology, The First Affiliated Hospital of Kunming Medical University, Kunming 650031, Yunnan Province, China.
World J Clin Cases. 2022 Sep 6;10(25):8990-8997. doi: 10.12998/wjcc.v10.i25.8990.
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 females has yet to be fully established.
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.
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.
卡尔曼综合征（KS），也称为低促性腺激素性性腺功能减退（HH）或嗅觉 - 性腺发育不良，是一种遗传性疾病，其主要症状是青春期开始失败或未能完全完成青春期发育。男女均可发病，还伴有性腺功能减退的症状，几乎总是导致不育。该疾病发病率较低，据估计，男性HH病例总体发病率为1/4000，KS发病率为1/50000。男性发病率比女性高3至5倍。这是真正的性别失衡，还是反映了KS/HH在男性和女性中正确诊断的难度，尚未完全明确。
本文报道一名26岁青春期延迟的男性患者。合成十肽促黄体生成素释放激素刺激试验显示促卵泡生成素和促黄体生成素分泌水平延迟。筛选了与特发性HH（IHH）常见相关的特征基因，发现了X连锁隐性（KAL-1）突变。通过泵进行脉冲式促性腺激素释放激素（GnRH）皮下治疗后，他的促性腺激素和睾酮水平显著升高。对KS诊断和治疗的最新进展以及遗传咨询进行了相关文献综述。
KS由遵循X连锁隐性遗传模式的KAL-1突变引起。通过泵进行脉冲式GnRH皮下治疗对该患者有效。
