Endocrine Abstracts

Reversible Kallmann syndrome (KS) is a rare variant of hypogonadotropic hypogonadism (HH) reported in men, in which gonadotropin, testosterone (T) and fertility recover spontaneously following treatment with gonadotropins or T. In a few cases mutations of FGFR1 and KAL1 genes have been found. In this report we describe a subject with a KS carrying a new homozygous mutation of PROK-R2 gene and displaying an apparent reversal of his reproductive condition. The proband, born from...

Prokineticins (PK1 and PK2) are peptides regulating multiple biological processes through two G-protein coupled receptors, PK-R1 and PK-R2. PK2/PKR2 signalling is critical for neurogenesis of olfactory bulb and GnRH migration. Mutant mice lacking PKR2 have abnormal development of olfactory bulb and reproductive system atrophy, suggesting that these genes may be novel candidate for Kallmann syndrome (KS) in humans. Recently, mutations in PK2 and PKR2 genes have been found in ne...