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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Symposia

Recent Advances in our Understanding of Hypogonadotrophic Hypogonadism

hrp0092s11.1 | Recent Advances in our Understanding of Hypogonadotrophic Hypogonadism | ESPE2019

Novel Insights into Developmental Pleiotropy From Genetic Studies in Kallmann Syndrome

Balasubramanian Ravikumar

Defects in the specification, migration and/or function of Gonadotropin-releasing hormone (GnRH) neurons gonadotropin-releasing hormone result in Kallmann Syndrome (KS), a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia (lack of sense of smell). To identify new molecular causes of KS, we performed a systematic genetic interrogation via whole exome sequencing of KS families. Autosomal dominant loss-of-function mutations in TCF12, a transcription...

hrp0092s11.2 | Recent Advances in our Understanding of Hypogonadotrophic Hypogonadism | ESPE2019

Novel Insights into the Regulation of Reproduction Using 3D-Imaging in Transparent Fetuses and Postnatal Animals

Giacobini Paolo

GnRH–secreting neurons are unusual neuroendocrine cells, as they originate in the nasal placode outside the central nervous system during embryonic development, and migrate to the hypothalamus along the vomeronasal and terminal nerves. Postnatally these cells become integral members of the hypothalamic-pituitary-gonadal axis and they regulate puberty onset and reproduction through the release of GnRH into the pituitary portal blood vessels for delivery to the anterior pit...