ESPE Abstracts

3β-HSD2 Deficiency Due to Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and a Frameshift Deletion (p.Lys273ArgFs*7) in an Under-Virilized Infant Male with Salt Wasting | ESPE2019
Sofia Leka-Emiri; Ludmia Taibi; Aspasia Fotinou; Elpis Vlachopapadopoulou; Stefanos Michalacos; Roux Nicolas de
http://abstracts.eurospe.org/hrp/0092/hrp0092P2-251
Published: 2019-08-22

Absence of Puberty and Estrogen Resistance by Estrogen Alpha Receptor Inactivation in Two Sisters: A Mutation for Variable Phenotypic Severity | ESPE2019
Clémence Delcour; Nahla Khawaja; Hedi Mammeri; Leila Drira; Didier Chevenne; Kamel Ajlouni; Roux Nicolas De
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC15.6
Published: 2019-08-22

3β-HSD2 Deficiency Due to Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and a Frameshift Deletion (p.Lys273ArgFs*7) in an Under-Virilized Infant Male with Salt Wasting | ESPE2019
Sofia Leka-Emiri; Ludmia Taibi; Aspasia Fotinou; Elpis Vlachopapadopoulou; Stefanos Michalacos; Roux Nicolas de
http://abstracts.eurospe.org/hrp/0092/hrp0092p2-251.html
Published: 2019-08-22

Absence of Puberty and Estrogen Resistance by Estrogen Alpha Receptor Inactivation in Two Sisters: A Mutation for Variable Phenotypic Severity | ESPE2019
Clémence Delcour; Nahla Khawaja; Hedi Mammeri; Leila Drira; Didier Chevenne; Kamel Ajlouni; Roux Nicolas De
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc15.6.html
Published: 2019-08-22

Non-Isolated Central Precocious Puberty: Prevalence of Brain Lesions and Other Associated Disorders | ESPE2018
Selmen Wannes; Maleh Monique El; Roux Nicolas De; Delphine Zenaty; Dominique Simon; Laetitia Martinerie; Caroline Storey; George
http://abstracts.eurospe.org/hrp/0089/hrp0089rfc9.5.htm
Published: 2018-08-28

The Kallman Syndrome Gene Product is Specifically Expressed in ACTH-Expressing Cells and Dysplays Sexual Dimorphism Expression in Human Fetal Pituitary | ESPE2018
Fabien Guimiot; Adeline Bonnard; Nadia Soussi-Yaniscostas; Carol Schnoll; Roux Nicolas de
http://abstracts.eurospe.org/hrp/0089/hrp0089fc13.4.htm
Published: 2018-08-28

A Novel Mutation of KISS1R Causing a Normosmic Isolated Hypogonadotropic Hypogonadism | ESPE2016
Keisuke Yoshii; Justine Hugon-Rodin; Anne Gompel; Roux Nicolas de
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc12.2.htm
Published: 2016-08-19

Abnormal Corticospinal Tract Decussation in Kallmann Syndrome due to ANOS1 (KAL1) Mutations: An Explanation of the Mirror Movements Frequently Observed in These Patients | ESPE2016
Laura Gonzalez-Briceno; Emmanuel Sonnet; Fabien Guimiot; Annie Laquerriere; Veronique Kerlan; Douraied Ben Salem; Peter Gunczler
http://abstracts.eurospe.org/hrp/0086/hrp0086fc12.5.htm
Published: 2016-08-19

Rabconnectin3-[alpha] is Indispensable for the Activation and Maturation of the GnRH Neuronal Network | ESPE2016
Brooke Tata; Carole Harbulot; Zsolt Csaba; Sandrine Jacquier; Roux Nicolas de
http://abstracts.eurospe.org/hrp/0086/hrp0086fc12.1.htm
Published: 2016-08-19

Loss of Neuronal Dmxl2 Impairs the Maturation and the Activation of GnRH Neurons: a New Mechanism of GnRH Deficiency | ESPE2015
Carole Harbulot; Brooke Tata; Sandrine Jacquier; Roux Nicolas De
http://abstracts.eurospe.org/hrp/0084/hrp0084fc-lb-2.htm
Published: 2015-08-26