Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

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hrp0082fc5.1 | Neuroendocrinology | ESPE2014

Derivation of GnRH Neuron-Like Cells from Human Embryonic Stem Cell-Derived Neural Crest Progenitors

Noisa Parinya , Chokechuwattanalert Hataiwan , Lund Carina , Tuuri Timo , Raivio Taneli

Background: Neural crest (NC) cells emerge at the interface between neural and non-neural ectoderm, and migrate extensively to form a variety of NC derivatives such as peripheral neurons, glia, melanocytes, endocrine cells, and mesenchymal precursor cells. NC cells possess various unique properties and are capable of undergoing cell fate decisions across multiple tissues and germ layers. In zebrafish and mouse, GnRH neurons are reported to arise also from NC.<p class="abst...

hrp0082fc5.2 | Neuroendocrinology | ESPE2014

Mutations in the Maternally Imprinted Gene MKRN3 are a Frequent Cause of Familial Central Precocious Puberty

Mekhail Nancy , Ba Ibrahima , Simon Dominique , Paulsen Anne , Zenaty Delphine , Houang Muriel , Jesuran-Perelroizan Monique , de Filippo Gianpaolo , Salerno Maria Carolina , Carel Jean-Claude , Leger Juliane , de Roux Nicolas

Background: Recently, mutations in the maternally imprinted MKRN3 gene have been associated to familial idiopathic central precocious puberty (iPPC). The clinical phenotype and the frequency of these mutations are poorly described.Objective and hypotheses: Delineate the frequency of MKRN3 mutations in iPPC and perform a genotype–phenotype correlation in MKRN3 mutated patients.Method: 59 index cases with iPPC have been included...

hrp0082fc5.3 | Neuroendocrinology | ESPE2014

Loss of Function Mutations in pnpla6 Cause Hypogonadotropic Hypogonadism due to Impaired LH Release from Pituitary Gonadotropes

Topaloglu Ali Kemal , Lomniczi Alejandro , Kretzschmar Doris , Dissen Gregory A , Damla Kotan Leman , McArdle Craig A , Koc A. Filiz , Hamel Ben C , Guclu Metin , Papatya Esra D , Eren Erdal , Mengen Eda , Gurbuz Fatih , Cook Mandy , Castellano Juan M , Kekil M. Burcu , Mungan Neslihan O , Yuksel Bilgin , Ojeda Sergio R

Background: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.Patients and methods: We studied a cohort of multiplex families with GHS through autozygosity mapping and whole exome sequencing.Results: We identified patients from three independent families carrying loss-...

hrp0082fc5.4 | Neuroendocrinology | ESPE2014

Reference Values for Urinary Gonadotropins in Preterm and Full-Term Infants in ‘Minipuberty’

Kuiri-Hanninen Tanja , Hamalainen Esa , Silvennoinen Sanna , Dunkel Leo , Sankilampi Ulla

Background: Hypothalamic–pituitary–gonadal (HPG) axis activates soon after birth, and this ‘minipuberty’ provides a transient phase for evaluation of the function of the HPG axis in early infancy. Substantial differences in postnatal gonadotropin secretion have been reported between preterm (PT) and full-term (FT) boys and girls. Therefore, when evaluating gonadotropin levels in infants, time from birth (calendar age), maturity (postmenstrual, PM age) and s...

hrp0082fc5.5 | Neuroendocrinology | ESPE2014

Characterization of IGFI Receptor Expression and Localization in Paediatric Gliomas Upon Diagnosis According to WHO 2007 Grading

Clement Florencia , Venara Marcela , Maglio Silvana , Martin Ayelen , Matho Cecilia , Petre Cesar , Lombardi Mercedes Garcia , Bergada Ignacio , Pennisi Patricia

Background: Gliomas are the most common subgroup of CNS tumours in children. Histologic grading is a means of predicting the biological behavior of these tumours and survival is strongly correlated with tumour gradation. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. Recently, nuclear translocation of the type 1 IGF1R has been demonstrated in tumour tissues. Although the IGF1R expression has been described in C...

hrp0082fc5.6 | Neuroendocrinology | ESPE2014

The Diencephalic Syndrome of Emaciation in Infantile Hypothalamochiasmatic Low-Grade Gliomas : a Retrospective Case–Control Study of Diagnostic Parameters and Long-Term Outcomes Over 30 Years of Follow-Up

Gan Hoong-Wei , Meijer Lisethe , Gullick Georgina , Senbanjo Margaret , Walker David , Spoudeas Helen

Background: Diencephalic syndrome (DS) is a rare disorder of severe emaciation classically associated with infantile Hypothalamochiasmatic low-grade gliomas (HCLGGs) and GH excess. However, diagnostic criteria remain undefined and published literature includes non-specific tumour-related cachexia. In a large optic pathway LGG cohort (n=166), we have previously demonstrated that DS independently predicts multiple tumour progressions and severe endocrine morbidity.<...