hrp0086p2-p67 | Adrenal P2 | ESPE2016

Successful Medical Management of Severe Neonatal Cushing Syndrome with Metyrapone, Guided by Mass Spectrometry Monitoring

Poidvin Amelie , Storey Caroline , Martinerie Laetitia , Braun Karine , Lahlou Najiba , Leger Juliane , Carel Jean-Claude

Background: Neonatal Cushing syndrome is a rare and severe condition, mostly associated with the McCune-Albright (MCA) syndrome. Management options include medical treatment (with ketoconazole or metyrapone resulting in 11-beta-hydroxylase blockade) and radical treatment with bilateral adrenalectomy. Spontaneous regression in late infancy has been reported.Objective and hypotheses: To report on the outcome of a 14 month-old girl with severe neonatal Cush...

hrp0086p1-p106 | Bone & Mineral Metabolism P1 | ESPE2016

Bone Mineral Density, Pubertal Status and Ability to Walk are Associated to Fracture Incidence in Patients with Rett Syndrome

Rothenbuhler Anya , Lahlou Najiba , Bienvenu Thierry , Buisson Nadia Bahi , Linglart Agnes

Background: Rett (RTT) syndrome is a neurodevelopmental disorder related to mutations in the MECP2 gene that affects girls almost exclusively. In Rett syndrome patients have a high incidence of fractures that can occur at a young age.Objective and hypotheses: One of the objectives of this study was to identify clinical, radiographic and biological parameters associated to fracture incidence.Method: 89 RTT patients bearing a MEC...

hrp0086p1-p745 | Pituitary and Neuroendocrinology P1 | ESPE2016

Constitutional Delay of Puberty or Hypogonadotropic Hypogonadism: Diagnostic Value of Inhibin B and AMH Measurements

Istanbullu Sibel , Lahlou Najiba , Chevenne Didier , Leger Juliane , Carel Jean-Claude , Martinerie Laetitia

Background: Boys with delayed puberty represent one of the main cause for pediatric endocrine referrals. Although the majority of them have constitutional delay of growth and puberty (CDGP), it is important to identify isolated hypogonadotropic hypogonadism (IHH) for optimal management.Objective and hypotheses: The aim of the study was to evaluate the usefulness of inhibin B and AMH as biological markers for distinguishing between CDGP and IHH.<p cla...

hrp0094p2-193 | Fat, metabolism and obesity | ESPE2021

Early decline in Sertoli cell function during puberty in overweight and obese boys: a cross-sectional study

Rerat Solene , Amsellem-Jager Jessica , L’hours Marie-Clemence , Bouhours-Nouet Natacha , Donzeau Aurelie , Rouleau Stephanie , Levaillant Lucie , Emeriau Fabienne , Moal Valerie , Boux de Casson Florence , Lahlou Najiba , Coutant Regis ,

Context: Alterations in semen characteristics and Sertoli and Leydig cell function have been described in obese male adults. Whether these alterations occur before adulthood has not been fully evaluated.Objective and Design: Cross sectional study from 2010 to 2018 describing gonadic function in overweight-obese (ow/ob) boys through childhood and adolescence.Setting: Monocentric study in the Pediatric Endocrinology ...