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ea0032p852 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

A novel mutation in gonadotropin releasing hormone receptor causing delay in puberty in a sporadic case of isolated hypogonadotropic hypogonadism

Riaz Misbah , Mansoor Qaiser , Akram Maleeha , Shahbaz Madiha , Aslam Shaista , Mirza Shakeel , ullah Irfan , Akhtar Parveen , Qayyum Mazhar , Naseem Afzaal Ahmed , Tahir Fahim , Ismail Muhammad , Rizvi S S R

The signaling of G protein-coupled receptor 54 (GPR54) is a key regulator of the secretion of gonadotropin-releasing hormone (GnRH) from the hypothalamic GnRH neurons, whereas GnRH is a crucial neurohormone regulating the secretion of FSH and LH at the time of puberty. The deficiency in the release or action of GnRH leads to hypogonadotropic hypogonadism (HH) characterized by low FSH, LH and testosterone (T) and results in absent or impaired sexual development at puberty. In b...

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A novel mutation in gonadotropin releasing hormone receptor causing delay in puberty in a sporadic case of isolated hypogonadotropic hypogonadism

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