Department of Endocrinology, Union Hospital, Huazhong University of Science and Technology, Wuhan 430000, China.
Yi Chuan. 2022 Dec 20;44(12):1158-1166. doi: 10.16288/j.yczz.22-161.
Hypogonadotropic hypogonadism (HH) is a disease defined by dysfunction of the hypothalamic- pituitary-gonadal hormone axis, leading to low sex hormone levels and impaired fertility. HH with anosmia or hyposmia is known as Kallmann syndrome (KS). Waardenburg syndrome (WS) is a rare autosomal dominant genetic disorder characterized by sensorineural hearing loss and abnormal pigmentation. In this report, we collected the clinical data of a patient with hypogonadotropic hypogonadism and congenital hearing loss of unknown cause. The patient had no obvious secondary sexual characteristics development after puberty, and had a heterozygous deletion (at least 419 kb) in 22q13.1 region (Chr.22:38106433-38525560), which covered the gene. The abnormalities were not found in gene sequencing analysis of both the parents and sister of the proband. By summarizing and analyzing the characteristics of this case, we further discussed the molecular biological etiological association between HH and WS type 2. This case also enriches the clinical data of subsequent genetic studies, and provides a reference for the diagnosis and treatment of such diseases.
低促性腺激素性性腺功能减退症（HH）是一种由下丘脑-垂体-性腺激素轴功能障碍引起的疾病，导致性激素水平降低和生育能力受损。伴有嗅觉缺失或减退的 HH 被称为 Kallmann 综合征（KS）。Waardenburg 综合征（WS）是一种罕见的常染色体显性遗传疾病，其特征为感觉神经性听力损失和色素异常。在本报告中，我们收集了一名患有低促性腺激素性性腺功能减退症和先天性不明原因听力损失的患者的临床数据。该患者青春期后无明显第二性征发育，在 22q13.1 区域（Chr.22：38106433-38525560）存在杂合性缺失（至少 419 kb），该区域包含 基因。在先证者的父母和妹妹的基因测序分析中均未发现异常。通过总结和分析该病例的特点，我们进一步探讨了 HH 和 WS 型 2 之间的分子生物学病因关联。该病例还丰富了后续遗传研究的临床数据，为这类疾病的诊断和治疗提供了参考。
