We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.
- Authors
Xu, Weiwei; Zhou, Weibin; Lin, Haiyang; Ye, Dan; Chen, Guoping; Dong, Fengqin; Shen, Jianguo
- Abstract
Background: Variants 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 presentation: A 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. Conclusion: Exploration of the novel splice-site mutation of CHD7 may further our current understanding of KS.
- Subjects
HYPOGONADISM; ENDOCRINOLOGY; GENETIC mutation; PHOTON absorptiometry; KALLMANN syndrome; DELAYED puberty; MAGNETIC resonance imaging; CONTRAST media; GONADOTROPIN; DNA-binding proteins; BONE density; RESEARCH bias; COMPUTED tomography; OPHTHALMOLOGY; CHORIONIC gonadotropins
- Publication
BMC Endocrine Disorders, 2021, Vol 21, Issue 1, p1
- ISSN
1472-6823
- Publication type
Article
- DOI
10.1186/s12902-021-00836-0