Abstract
Objective: To investigate the possibility that a mutation in the human EMX2 gene may be involved in Kallmann's syndrome. Design: In vitro experiment. Setting: Academic Medical Center. Patients: One hundred and twenty patients with Kallman's syndrome or idiopathic hypogonadotrophic hypogonadism (IHH). Intervention: Peripheral blood leukocytes were used to obtain DNA. Main outcomes measures: Single-stranded conformational polymorphism (SSCP) analysis was used to identify possible mutations of the EMX2 gene. Results: One hundred and twenty patients with Kallmann's syndrome or IHH, had no mutations noted in this gene. Conclusion: It is unlikely that EMX2 mutations are a clinically significant cause of IHH or Kallman's syndrome.
Original language | English (US) |
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Pages (from-to) | 910-914 |
Number of pages | 5 |
Journal | Fertility and sterility |
Volume | 72 |
Issue number | 5 |
DOIs | |
State | Published - Nov 1999 |
Externally published | Yes |
Keywords
- EMX genes
- EMX2
- Genetics
- Gonadotropin
- Homeobox genes
- Hypogonadism
- Idiopathic hypogonadotrophic hypogonadism
- Kallman's syndrome
- SSCP analysis
ASJC Scopus subject areas
- Reproductive Medicine
- Obstetrics and Gynecology