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Friday, 18 November 2011

Kallman's syndrome

- isolated GnRH deficiency
- X-linked, resulting from mutation of KAL1 gene which encodes anosmin-1
- occurs in 1:10,000 males
- results form disordered migration of gonadotrophin releasing hormone (GnRH) producing neurones into hypothalamus
- associated with anosmia, cleft palate, colour blindness, obesity, hypogonadotrophic hypogonadism
- treatment: male - hCG or testosterone restore pubertal development and secondary sexual characteristic. pulsed GnRH restore fertility ; female - cyclic estrogen and progesterone

1 comment:

MATINA said...


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