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A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report

Authors
  • Xu, Weiwei1
  • Zhou, Weibin1
  • Lin, Haiyang2
  • Ye, Dan1
  • Chen, Guoping1
  • Dong, Fengqin1
  • Shen, Jianguo1
  • 1 First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, Hangzhou, 310003, China , Zhejiang (China)
  • 2 the Affiliated Wenling Hospital, Wenzhou Medical University, #333, S Chuan’an Road, Wenling, Zhejiang, 317500, China , Zhejiang (China)
Type
Published Article
Journal
BMC Endocrine Disorders
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Sep 25, 2021
Volume
21
Issue
1
Identifiers
DOI: 10.1186/s12902-021-00836-0
Source
Springer Nature
Keywords
Disciplines
  • Reproductive and Adrenal
License
Green

Abstract

BackgroundVariants of chromodomain helicase DNA binding protein 7 (CHD7) gene are commonly associated with Kallmann syndrome (KS) and account for 5–6% of idiopathic hypogonadotropic hypogonadism (IHH) cases. Here we report a novel mutation of CHD7 gene in a patient with KS, which may contribute to the better understanding of KS.Case presentationA 29-year-old male patient with KS and a chief complaint of delayed puberty for 13 years (Tanner B Stage< 4) was admitted to the Department of Endocrinology of the First Affiliated Hospital of Zhejiang University (Hangzhou, China) in September 2019. Dual-energy X-ray absorptiometry (DEXA) showed low bone density in both lumbar spine (L1 ~ L5 mean Z-score − 3.0) and femoral neck (Z-score − 2.7). Dynamic contrast-enhanced magnetic resonance imaging (MRI) of pituitary and contrast-enhanced computed tomography (CT) showed no abnormal findings. Ophthalmological evaluation showed that his both eyes showed exotropia, and no sight loss was noted. Heterozygous c.1619G > T mutation of TCD7 gene (p.G4856V) was detected, whereas none of his family members had this mutation. Human chorionic gonadotropin (HCG) and human menopausal gonadotropin (HMG) were injected for three times/week to treat idiopathic hypogonadotropic hypogonadism (IHH). After several months of therapy, the patient’s health condition improved. His testicles became larger, and his secondary sexual characteristics improved after treatment.ConclusionExploration of the novel splice-site mutation of CHD7 may further our current understanding of KS.

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