hrp0086fc5.3 | Management of Disorders of Insulin Secretion | ESPE2016

Glibentek, a New Suspension of Glibenclamide for Patients with Neonatal Diabetes, is as Effective and more Convenient than Crushed Tablets

Beltrand Jacques , Godot Cecile , Busiah Kanetee , Djerada Zoubir , Baron Sabine , Tallec Claire Le , Tessier Raphael , Ribault Virginie , Cartigny Maryse , Bruel Henri , Gozalo Claire , Treluyer Jean-Marc , Elie Caroline , Polak Michel

Background: Glibenclamide has proven to be efficient for patients with neonatal diabetes owing to potassium channel mutations. Anyway its pharmaceutical form is not suitable for young children or infants. The tablets dosage is too high for most infants and must be crushed and diluted before administration. We developed a suspension of glibenclamide (EMA Orphean drug designation january 2016) fitting recommendations of drug administration to allow a precise dosage and designed ...

hrp0086rfc14.2 | Growth : Mechanisms | ESPE2016

Contribution of GHR and IGFALS Mutations to Growth Hormone Resistance – Identification of New Variants and Impact on the Inheritance Pattern

Legendre Marie , Dastot Florence , Collot Nathalie , Duquesnoy Philippe , Cohen Enzo , Sobrier Marie-Laure , Adiceam Paola , Anderson Donald , Baron Sabine , Cabrol Sylvie , Callewaert Bert , Cartigny Maryse , Craen Margarita , Crock Patricia , Ladjouze Asmahane , Lazea Cecilia , Polak Michel , Savendahl Lars , Touzani Asmae , Amselem Serge

Background: Bi-allelic GHR mutations are classically responsible for Laron syndrome, a severe growth hormone (GH) resistance syndrome. A few GHR missense mutations have also been implicated in mild GH resistance or idiopathic short stature. IGFALS mutations are responsible for recessive or semi-dominant short stature with normal GH provocative test contrasting with extremely low IGF-I levels.Objective and hypotheses: To assess the contribution of GHR and...

hrp0084wg1.1 | Bone & Growth Plate | ESPE2015

Short Stature: Blame the Chondrocyte

Baron Jeffrey

Background: In the past, the GH–IGF1 axis was thought to be the central system regulating childhood growth and therefore responsible for short stature and tall stature.Objective and hypotheses: The objective of this talk is to conceptualize disorders of linear growth in terms of the underlying growth plate biology.Method: Powerful, new, unbiased tools have recently been developed to investigate the genetic control of childhood...

hrp0086p2-p384 | Gonads & DSD P2 | ESPE2016

The Efficacy and Safety of Gonadotropin-Releasing Hormone Analogue Treatment to Suppress Puberty in Gender Dysphoric Adolescents

Hannema Sabine , Schagen Sebastian

Background: Puberty suppression using gonadotropin releasing hormone analogues (GnRHa) is recommended by current guidelines. Although GnRHa have long been used to treat children with precocious puberty there are few data on the outcome of this treatment in gender dysphoric adolescents.Objective and hypotheses: We aimed to evaluate the efficacy and safety of triptorelin to suppress puberty in a cohort of gender dysphoric adolescents.<p class="abstext"...

hrp0084p1-136 | Turner &amp; Puberty | ESPE2015

The Eap1 Promoter is Differentially Methylated at the Onset of Puberty in Normal Weight and Obese Female Rats

Moeller Hanna , Heger Sabine

Background: Mammalian puberty is initiated by the pulsatile release of gonadotropin-releasing hormone (GnRH) from hypothalamic neurons. Enhanced at puberty (Eap) 1 is a transcription factor within this regulatory network integrating exogenous and endogenous informations, e.g. weight. Recent studies indicate an epigenetic regulation of the pubertal process.Objective and hypotheses: This study investigates if overweight modifies epigenetic marks i...

hrp0092p2-257 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Physical Changes, Laboratory Parameters and Bone Mineral Density During Testosterone Treatment in Adolescents with Gender Dysphoria

Stoffers Iris , de Vries Martine , Hannema Sabine

Introduction: Although many adolescents with gender dysphoria (GD) are being treated with GnRH analogues (GnRHa) and gender affirming hormones there is a paucity of data on the effects and side effects of this treatment in this population. We aimed to study short-term outcome of testosterone treatment in male adolescents with GD.Methods: Sixty-two adolescents who had been treated with GnRHa, and subsequently with testost...

hrp0086p1-p357 | Gonads &amp; DSD P1 | ESPE2016

Changes in Adrenal Steroids During Puberty Suppression and Cross Sex Hormone Treatment in Gender Dysphoric Adolescents

Schagen Sebastian , Lustenhouwer Paul , Hannema Sabine

Background: Current guidelines recommend that gender dysphoric adolescents be treated with puberty suppression using gonadotropin releasing hormone analogues (GnRHa) followed by cross sex hormones. However limited data are available on the safety and side effects of this treatment. In adults changes in adrenal steroids have been observed during cross sex hormone treatment.Objective and hypotheses: We aimed to investigate the effect of GnRHa and cross sex...

hrp0084p1-113 | Puberty | ESPE2015

Relevance of Astrocytic Signals for GnRH-Neuronal Function

Ernst Johanna , Moeller Hanna , Pfeifer Manuel , Heger Sabine

Background: Gonadotropin releasing hormone (GnRH)-secretion is not only regulated by neuronal factors but also by astroglia cells via growth factors (transforming growth factor α (TGFα), neuregulin (NRG)), prostaglandin E2 (PGE2) and the erbB receptor family. Mutations of TGFα and erbB1 result in an impaired reproductive capacity. Mice show a characteristically skin phenotype with wavy hair and curly whiskers. The rat strain SPRD-Cu3 (curly) shows a sim...

hrp0084p1-119 | Puberty | ESPE2015

Lipid Profiles in Gender Dysphoric Adolescents Treated with GnRH Agonists Alone and in Combination with Cross-Sex Hormones

Schagen Sebastian , Delemarre-van de Waal Henriette , Hannema Sabine

Background: In gender dysphoric adolescents GnRH agonists can be used to suppress pubertal development of the natal sex. Subsequently cross sex hormones can be given to induce pubertal development of the experienced gender. Only few data are available on the safety of this treatment. Lipid levels are known to increase during puberty and pubertal suppression may alter this increase. In gender dysphoric male-to female (MtF) adults oestrogens has been shown to result in a more fa...

hrp0084p2-263 | Diabetes | ESPE2015

Insulin Sensitivity in Adolescents with Gender Dysphoria During Puberty Suppressing Therapy with GnRH Agonists

Schagen Sebastian , Delemarre-van de Waal Henriette , Hannema Sabine

Background: In gender dysphoric adolescents GnRH agonists can be used to suppress pubertal development of the natal sex. The metabolic implications of the pubertal suppression have not yet been explored. Insulin sensitivity is known to be influenced by pubertal changes. During puberty a decrease in insulin sensitivity is normally observed.Objective and hypotheses: The effects of GnRH agonists on insulin sensitivity during 2 years of treatment in adolesce...