PDF(Pubmed)
Abstract：
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder, resulting from impaired production, secretion, or action of gonadotropin-releasing hormone (GnRH). Variants of the KISS1R gene can result in CHH. Herein we describe a Chinese boy with CHH, caused by a novel, compound heterozygous variant in KISS1R. A male infant presented to the pediatric urological surgeon at three months of age for micropenis. Laboratory investigations done at this time revealed low levels of serum gonadotropins and testosterone, suggesting a lack of minipuberty. Topical application of dihydrotestosterone gel was recommended, but the parents refused treatment. The child was brought to our hospital at 3.3 years of age for the same complaint. A diagnosis of CHH was considered, and next generation sequencing revealed a compound heterozygous variant including a novel c.182C>A (p.S61*) and a c.418C>T (p.R140C) in KISS1R. We describe a novel compound heterozygous variant in the KISS1R in a boy with CHH, born to non-consanguineous Chinese parents. This report adds to the spectrum of variants in KISS1R seen in children with CHH.
摘要：
先天性低促性腺激素性性腺功能减退（CHH）是一种罕见的遗传性疾病，由于生产受损，分泌，或促性腺激素释放激素（GnRH）的作用。KISS1R的变体可导致CHH。这里我们描述了一个有CHH的中国男孩，由KISS1R中的一种新型复合杂合变体引起。一名男婴在三个月大的时候被送到小儿泌尿外科医生那里，微阴茎。此时进行的调查显示血清促性腺激素和睾酮水平较低，表明缺乏小青春期。建议局部应用双氢睾酮凝胶，但父母拒绝治疗.该儿童在3.3岁时因同一投诉被带到我们医院。考虑了CHH的诊断，下一代测序揭示了一种复合杂合变体，包括一个新的c.182C>A（p。S61*）和c.418C>T（p。R140C）在KISS1R中。我们在一个患有CHH的男孩的KISS1R中描述了一种新的复合杂合变体，出生在非血缘关系的中国父母。我们的报告增加了CHH儿童中KISS1R的变异谱。
