rpwalavalkar
Teale Fenning Administrator
Joined: 20 Jul 2006
Posts: 973
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 Posted: Sat Sep 01, 2007 4:36 am Post subject: Genetics of hypogonadotropic hypogonadism |
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currently known genetic causes of hypogonadotropic hypogonadism
KAL gene is located on the X chromosome, just below the pseudoautosomal region. An abnormality in this gene results in Kallmann syndrome, which is characterized by anosmia and hypogonadotropic hypogonadism.
DAX1 gene is associated with X-linked adrenal hypoplasia congenita (hypogonadotropic hypogonadism and adrenal insufficiency).
GNRHR is the gene associated with the GnRH (LHRH) receptor.
PC1 is the gene for prohormone convertase 1. Abnormality of this gene causes hypogonadotropic hypogonadism and defects in prohormone processing.
PROP1 gene mutations result in absence of several pituitary hormones, including growth hormone, thyroid-stimulating hormone, prolactin, and gonadotropins. PROP1 encodes a protein expressed in the embryonic pituitary, which is necessary for function of POU1F1 (formerly PIT1), which codes for a pituitary transcription factor.
HESX1 mutation is associated with septooptic dysplasia, which may include poor development of the pituitary.
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Dr Miss. Raj Walavalkar MBBS MRCOG
TealeFenning Administrator
SR O&G Wessex Region |
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