中枢性低促性腺激素性性腺功能减退症患者嗅觉及其他发育异常的发生率。
Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism.
机构信息
Unit and Chair of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia , Modena , Italy.
出版信息
Front Endocrinol (Lausanne). 2013 Jun 7;4:70. doi: 10.3389/fendo.2013.00070. eCollection 2013.
INTRODUCTION
Hypogonadotropic hypogonadism (HH) is a heterogeneous disease caused by mutations in several genes. Based on the presence of hyposmia/anosmia it is distinguished into Kallmann syndrome (KS) and isolated HH. The prevalence of other developmental anomalies is not well established.
METHODS
We studied 36 patients with HH (31 males, 5 females, mean age 41.5), 9 with familial and 27 with sporadic HH (33 congenital, 3 adult-onset), by physical examination, smell test (BSIT Sensonics), audiometry, renal ultrasound, and magnetic resonance imaging of the olfactory structures.
RESULTS
Based on the smell test, patients were classified as normosmic (n = 21, 58.3%) and hypo/anosmic (n = 15, 41.6%). Hypoplasia/agenesis of olfactory bulbs was found in 40% of patients (10/25; 75% hypo/anosmic, 7.6% normosmic, p < 0.01, Fisher's test). Remarkably, olfactory structures were normal in two anosmic patients, while one normosmic patient presented a unilateral hypoplastic bulb. Fourteen of 33 patients (42.4%) presented neurosensorial hearing loss of various degrees (28.5% hypo/anosmic, 52.6% normosmic, p = NS). Renal ultrasound revealed 27.7% of cases with renal anomalies (26.6% hypo/anosmic, 28.5% normosmic, p = NS). At least one midline defect was found in 50% of the patients (53.3% hypo/anosmic, 47.6% normosmic, p = NS), including abnormal palate, dental anomalies, pectus excavatum, bimanual synkinesis, iris coloboma, and absent nasal cartilage. Anamnestically 4/31 patients reported cryptorchidism (25% hypo/anosmic, 5.2% normosmic, p = NS).
CONCLUSION
Hypo/anosmia is significantly related to anatomical anomalies of the olfactory bulbs/tracts but the prevalence of other developmental anomalies, especially midline defects and neurosensorial hearing loss, is high both in HH and KS and independent of the presence of anosmia/hyposmia. From the clinical standpoint KS and normosmic HH should be considered as the same complex, developmental disease.
引言
低促性腺激素性性腺功能减退症（HH）是一种由几个基因的突变引起的异质性疾病。根据嗅觉缺失/减退的存在，它分为卡尔曼综合征（KS）和孤立性 HH。其他发育异常的患病率尚不清楚。
方法
我们研究了 36 名 HH 患者（31 名男性，5 名女性，平均年龄 41.5 岁），其中 9 名有家族史，27 名散发性 HH（33 名先天性，3 名成年发病），通过体格检查、嗅觉测试（BSIT Sensonics）、听力测试、肾脏超声和嗅觉结构的磁共振成像进行研究。
结果
根据嗅觉测试，患者分为正常嗅觉（n=21，58.3%）和嗅觉减退/缺失（n=15，41.6%）。40%的患者嗅球发育不良/发育不全（n=10/25；75%嗅觉减退/缺失，7.6%嗅觉正常，p<0.01，Fisher 检验）。值得注意的是，两名嗅觉缺失的患者嗅觉结构正常，而一名嗅觉正常的患者则表现为单侧嗅球发育不全。33 名患者中有 14 名（42.4%）有不同程度的感觉神经性听力损失（28.5%嗅觉减退/缺失，52.6%嗅觉正常，p=NS）。肾脏超声显示 27.7%的患者有肾脏异常（26.6%嗅觉减退/缺失，28.5%嗅觉正常，p=NS）。50%的患者至少有一个中线缺陷（53.3%嗅觉减退/缺失，47.6%嗅觉正常，p=NS），包括异常的腭、牙齿异常、漏斗胸、双手协同运动、虹膜裂、鼻软骨缺失。4/31 名患者有隐睾症病史（25%嗅觉减退/缺失，5.2%嗅觉正常，p=NS）。
结论
嗅觉减退/缺失与嗅球/嗅束的解剖异常显著相关，但 HH 和 KS 中其他发育异常（尤其是中线缺陷和感觉神经性听力损失）的患病率很高，且与嗅觉缺失/减退无关。从临床角度来看，KS 和正常嗅觉 HH 应被视为同一复杂的发育性疾病。
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