Searchable abstracts of presentations at key conferences in endocrinology
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12th European Congress of Endocrinology

Symposia

Genetic basis of infertility: clinical studies and clinical models

ea0022s17.1 | Genetic basis of infertility: clinical studies and clinical models | ECE2010

Genetically modified mouse models for the analysis of reproductive disorders

Colledge William , d'Anglemont de Tassigny Xavier

The mammalian reproductive axis is activated at puberty by neuroendocrine events within the hypothalamus that initiate the pulsatile secretion of GnRH. GnRH acts on the anterior pituitary to stimulate production of the gonadotrophic hormones (LH and FSH) which bring about maturation of the gonads. Both naturally occuring and genetically modified mutant mice have provided insights into the molecular events that maintain the function of each part of this reproductive axis. The c...

ea0022s17.2 | Genetic basis of infertility: clinical studies and clinical models | ECE2010

Neurokinin B signaling in human puberty

Topaloglu A Kemal

The control of the onset of human puberty remains an enigma. According to current understanding, the ‘GnRH pulse generator’, a functionally interconnected and synchronized network of GnRH neurons, is inhibited throughout childhood following a period of pubertal level activity during fetal life. Release of this inhibition at the early second decade of life signifies the reawakening of the pulse generator.Recently, we have identified loss-of-func...

ea0022s17.3 | Genetic basis of infertility: clinical studies and clinical models | ECE2010

Genetics of Kallmann syndrome

Dode Catherine , Hardelin Jean-Pierre

Kallmann syndrome (KS) typically combines severe congenital hypogonadotropic hypogonadism (HH) with anosmia. The degree of the hypogonadism and that of the smell deficiency can, however, vary significantly, not only between unrelated patients, but also within affected families. Some patients may also have non-reproductive, non-olfactory additional anomalies. Five causal genes have been identified to date, namely, KAL1, FGFR1, FGF8, PROKR2, and PR...