Partial trisomy 4q: a case report.
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Child↗
Biomedical subjects
Ying-xia Cui
Publications and source records attributed to Ying-xia Cui.
[Etiologic analysis of globozoospermia: a 1-case report].
OBJECTIVE: To investigate the etiologic factors of globozoospermia. METHODS: Routine semen analysis, sperm DNA special staining and chromosomal karyotype detection of peripherical blood lymphocytes were performed in a globozoospermia patient. RESULTS: Round-headed spermatozoa were lack of acrosome and the acrosin activity was low. Meanwhile, there was an additional band located in the Y chromosomal short arm. CONCLUSION: Lack of acrosome, low acrosin activity and abnormality of chromosome may be the main reasons for globozoospermia.
Acrosin↗
[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↗