Article
[Children with idiopathic hypogonadotropic hypogonadism: clinical data analysis and mutations analysis of KAL1 and FGFR1 gene].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Dec 2014
Qin Miao, Gong Chunxiu, Qi Zhan, Wu Di, Liu Min, Gu Yi, Cao Bingyan, Li Wenjing, Liang Xuejun
Abstract excerpt
OBJECTIVE: To summarize the clinical features of idiopathic hypogonadotropic hypogonadism (IHH) diagnosed during childhood, and detect mutations in KAL1 and FGFR1, acting as key clues for diagnoses. METHOD: We collected and analyzed clinical data of 21 cases (including demographic data, chief complaint, history of present illness, family history, physical examination, laboratory tests and imaging studies, etc.)...
Topics
- Adolescent
- Child
- DNA Mutational Analysis
- Exons
- Extracellular Matrix Proteins
- Female
- Heterozygote
- Humans
- Hypogonadism
- Kallmann Syndrome
- Male
- Mutation
- Nerve Tissue Proteins
- Olfaction Disorders