Partial trisomy 4q: a case report.
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Child↗
Biomedical subjects
Li-jun Hao
Publications and source records attributed to Li-jun Hao.
[Advances in the studies of Kallmann syndrome].
Kallmann syndrome (KS) is a rare hereditary disease. It is characterized by hypogonadotrophic hypogonadism in association with anosmia or hyposmia. At present, three modes of inheritance and genes related to KS have been identified. This review focuses on the clinical diagnosis and advances in the studies of the pathogenesis gene for Kallmann syndrome.
Diagnosis, Differential↗
[Diagnosis and differential diagnosis of Kallmann syndrome].
OBJECTIVE: To study diagnosis and differential diagnosis of Kallmann syndrome. METHODS: The examinations including routine karyotyping, sex hormone, GnRH stimulation test and MRI were performed. RESULTS: Cytogenetic analysis of his peripheral lymphocyte by G banding showed a normal male karyotype. GnRH stimulation test presented a good reaction. Plasma levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH) and testosterone were very low. Absent olfactory bulb was found by magnetic resonance imaging (MRI). CONCLUSION: Karyotype analysis, sexual hormone, GnRH stimulation test and MRI are very important the diagnosis of Kallmann syndrome.
Adult↗