A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.
Adult
China
DNA Helicases
/ genetics
DNA Mutational Analysis
DNA-Binding Proteins
/ genetics
Heterozygote
Humans
Hypogonadism
/ diagnosis
Kallmann Syndrome
/ complications
Magnetic Resonance Imaging
Male
Mutation, Missense
Polymorphism, Single Nucleotide
Puberty, Delayed
/ diagnosis
Tomography, X-Ray Computed
CHD7 gene
Case report
Heterozygous mutation
Idiopathic hypogonadotropic hypogonadism
Kallmann syndrome
Journal
BMC endocrine disorders
ISSN: 1472-6823
Titre abrégé: BMC Endocr Disord
Pays: England
ID NLM: 101088676
Informations de publication
Date de publication:
25 Sep 2021
25 Sep 2021
Historique:
received:
22
10
2020
accepted:
05
08
2021
entrez:
26
9
2021
pubmed:
27
9
2021
medline:
4
2
2022
Statut:
epublish
Résumé
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. 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. Exploration of the novel splice-site mutation of CHD7 may further our current understanding of KS.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
Exploration of the novel splice-site mutation of CHD7 may further our current understanding of KS.
Identifiants
pubmed: 34563184
doi: 10.1186/s12902-021-00836-0
pii: 10.1186/s12902-021-00836-0
pmc: PMC8465769
doi:
Substances chimiques
DNA-Binding Proteins
0
DNA Helicases
EC 3.6.4.-
CHD7 protein, human
EC 3.6.4.12
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
193Subventions
Organisme : Young Scientists Fund
ID : 81701365
Organisme : Zhejiang Province Public Welfare Technology Application Research Project
ID : 2018KY363
Informations de copyright
© 2021. The Author(s).
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