hrp0094fc10.3 | Thyroid | ESPE2021

Genetic analyses in patients having congenital hypothyroidism with gland-in-situ by next-generation sequencing

Levaillant Lucie , Bouhours-Nouet Natacha , Illouz Frederic , Bouzamondo Nathalie , Rodien Patrice , Prunier-Mirebeau Delphine , Coutant Regis ,

Introduction: Primary Congenital Hypothyroidism (CH) is an abnormal function of the thyroid gland present at birth. Anomalies of thyroid function are usually classified between thyroid dysgenesis, corresponding to an abnormal embryological development of the thyroid, and CH with gland-in-situ (GIS), resulting from mutations in genes involved in thyroid hormone synthesis. We report 105 patients with CH with GIS that have been referred to Angers University Hospi...

hrp0094p2-187 | Fat, metabolism and obesity | ESPE2021

Effect of Semaglutide on body weight in obese children with craniopharyngioma: a preliminary report

Jourdren Marie , Coutant Regis , Bouhours Nouet Natacha , Amsellem Jager Jessica , Donzeau Aurelie , Levaillant Lucie , Delion Mathieu ,

Background: Pituitary insufficiency and severe obesity are common sequelae of craniopharyngioma and its treatment. Once weekly glucagon-like Peptide 1 (GLP1) analog’s semaglutide has recently shown efficacy in adults with common obesity.Objective: We evaluated the efficacy and safety of Semaglutide, a once-weekly GLP-1 analog, in 6 children with craniopharyngioma and morbid obesity.Subjects an...

hrp0097p1-509 | Growth and Syndromes | ESPE2023

Significant height response to growth hormone treatment in subjects with Wiedemann Steinert syndrome.

Le Potier Emma , Donzeau Aurélie , Rouleau Stephanie , Bouhours-Nouet Natacha , Levaillant Lucie , Peborde Marie , Poisson Audrey , Alcina Mailys , Coutant Regis

Background: Wiedemann Steinert Syndrome (WSS) is characterized by distinctive facial features (hypertelorism, thick eyebrows, long philtrum, broad nasal bridge), growth retardation, and intellectual disability of varying degrees. Affected individuals are often born small for their gestational age and have generalized hypertrichosis. Some have growth hormone deficiency, usually partial with normal pituitary MRI. The disease is caused by autosomal dominant varia...

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 ...

hrp0094p2-200 | Fat, metabolism and obesity | ESPE2021

Impact of weight loss on gonadic function in overweight and obese boys

Rerat Solene , Coutant Regis , Beaumesnil Marion , L’hours Marie-clemence , Bouhours-Nouet Natacha , Donzeau Aurelie , Rouleau Stephanie , Levaillant Lucie , Emeriau Fabienne , Moal Valerie , Boux de casson Florence , Amsellem-Jager Jessica ,

Introduction: In obese boys, alteration of Sertoli and Leydig cell functions have been described, but potential reversibility of these alterations after weight loss during childhood has not been fully evaluated.Objective: Evaluate the impact of weight loss on gonadic function in obese boys.Setting: Monocentric study in the Pediatric Endocrinology Unit of Angers University Hospital ant its follow-up...

hrp0094fc10.2 | Thyroid | ESPE2021

Prevalence and outcome of Congenital Central Hypothyroidism: A Multicenter Study

Lucie Levaillant , German , Almashanu , De Vries Liat , Gil Merav , Halloun Rana , Haim Alon , Eyal Ori , Magid Yael , Levi Floris , Pivko-Levi Dikla , Nir Judith , Pinhas-Hamiel Orit , Tenenbaum-Rakover Yardena , Natacha Bouhours-Nouet , Frederic Illouz , Nathalie Bouzamondo , Patrice Rodien , Delphine Prunier-Mirebeau , Regis Coutant

Background: More than half of newborns with central congenital hypothyroidism (C-CH) have moderate-to-severe hypothyroidism in the neonatal phase, requiring immediate thyroxine therapy to prevent brain damage. The Israeli newborn screening for CH is based on the measurement of total T4 (TT4) followed by TSH measurement. However, when TSH is within the normal range the physicians are not informed of the results and therefore the diagnosis of C-CH and initiation...