hrp0082fc10.6 | Programming & Early Endocrinology | ESPE2014

The PremAldo Study: Impaired Aldosterone Signaling Worsens Renal Sodium Loss in Preterm Infants

Martinerie Laetitia , Pussard Eric , Yousef Nadya , Cosson Claudine , Lema Ingrid , Mur Sebastien , Boileau Pascal , Lombes Marc

Background: Tubular immaturity, responsible for sodium wasting, is critical during the neonatal period, particularly in preterm neonates. This relates to partial renal aldosterone resistance (Martinerie, Ped Res 2009), coincident with low tubular expression of the mineralocorticoid receptor in newborns (Martinerie, Endocrinology 2009).Objective and methods: Our clinical trial (NCT01176162) aimed to assess aldosterone resistance in neona...

hrp0084p2-549 | Puberty | ESPE2015

Balance Control in Children and Adolescent Girls with Turner Syndrome

Peultier Laetitia , Gauchard Gerome , Leheup Bruno , Lebon-Labich Beatrice , Perrin Phlippe

Background: Turner syndrome (TS), affects approximately 1/2500 live female births. The clinical features range from a severe phenotypic character to reduction of final height and premature ovarian failure.Objective and hypotheses: Processing of sensory information from visual, vestibular and somatokinesthetic systems is required to organize an adequate motor response aiming at gaze and posture stabilization according to the expected task and to the envir...

hrp0089p2-p043 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Metabolic Syndrome in Children with X-linked Hypophosphatemic Rickets (XLHR)

Lambert Anne-Sophie , Saadeddine Sanaa , Rothenbuhler Anya , Ussardi Alessia , Trabado Severine , Linglart Agnes

Introduction: X-linked hypophosphatemic rickets (XLHR) is due to mutations in the PHEX gene inducing increased levels of fibroblast growth factor 23 (FGF23), phosphate wasting, hence rickets. FGF23 is suspected to be as an important metabolic regulator of glucose and lipid metabolism.Objective: To describe the metabolic profile (body mass index, blood pressure, glucid and lipid profile) in patients with XLHR and evaluate the correlation between FGF23 lev...

hrp0089p2-p044 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

High Incidence of Cranial Synostosis and Chiari Malformation in Children with X-linked Hypophosphatemic Rickets

Rothenbuhler Anya , Bacchetta Justine , Fadel Nathalie , Lambert Anne Sophie , Adamsbaum Catherine , Linglart Agnes , Rocco Federicco Di

Background: X-linked hypophosphatemic rickets (XLH) represents the most common form of hypophosphatemia and leads to vitamin D resistant rickets in children. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation- have been observed in XLH patients their actual incidence is not established.Aim: Describe and analyze the incidence of cranial and...

hrp0089p2-p384 | Thyroid P2 | ESPE2018

Graves’s Disease During Pregnancy: The Impact on the Fetus and the Newborn

Belin Florine , Rodrigue Danielle , Claire Claire , Bouvattier , Teinturier Cecile , Fouati Khadidja , Linglart Agnes , Lambert Anne-Sophie

Introduction: Graves’s disease is frequent in women, its prevalence being 0.5–2% and its incidence 0.1–1% during pregnancy. Both TSH anti-receptor antibodies and the synthetic antithyroid drugs cross the placenta, increasing the risk of hypo- and/or hyperhtyroidism. Our objective is to describe the thyroid status of fetus and newborns from women with Graves’s disease referred to our Department.Materials and methods: We included childr...

hrp0086p1-p122 | Bone & Mineral Metabolism P1 | ESPE2016

Bisphosphonates Therapy in Girls with Rett Syndrome and Bone Fragility

Lambert Anne-Sophie , Rothenbuhler Anya , Charles Perrine , Celestin Elisabeth , Bahi-Buisson Nadia , Linglart Agnes

Background: Rett Syndrome (RS) is a disabling condition due to mutations in MECP2. Girls affected with RS are at risk of developing osteoporosis and fractures at a young age because of their lack of mobility and though a direct effect of MECP2 on bone mineralization. In these girls, bone fragility inflicts pain and may seriously impair the quality of life.Objective: To retrospectively assess the effect of pamidronate on fractures, bone mineral density (B...

hrp0086p1-p888 | Thyroid P1 | ESPE2016

“Semi-Hot” Thyroid Nodules Associated with GNAS Mutations in Three Adolescents

Lambert Anne Sophie , Rodrigue Danielle , Papin Jean Francois , Linglart Agnes , Bougneres Pierre

Background: Hot thyroid nodules are uncommon in children and adolescents. Hyperfunctioning adenoma do not always produce hyperthyroidism, but can precede the apparition of a truly toxic adenoma. Autonomous adenoma can be associated with mutations of TSH-R and some mutations of GNAS.Patients: Patient 1 presented mild clinical hyperthyroidism. Patients 2 and 3 were asymptomatic and had clinical euthyroidism. Examination revealed a unique isolated thyroid n...

hrp0094p1-95 | Thyroid A | ESPE2021

Prevalence and Characteristics of thyroid nodules in a pediatric population with congenital hypothyroidism

Ferri Marion , Rodrigue Danielle , Francois Papon Jean , Teinturier Cecile , Linglart Agnes , Sophie Lambert Anne ,

Objective: To assess the characteristics of thyroid nodules among infants diagnosed with congenital hypothyroidism and to discuss the interest of a systematic screening.Material and method: A retrospective study of children with congenital hypothyroidism due to dyshormonogenesis was carried out at the pediatric endocrine center in Kremlin Bicêtre hospital, Paris, between 1999 to 2020. A screening ultrasound for thyroid nodules was t...

hrp0095p1-544 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Long term effects of continuous subcutaneous infusion of recombinant LH and FSH during infancy on testicular function in congenital hypogonadotropic hypogonadism.

Sophie Lambert Anne , Avril Tristan , Teinturier Cecile , Rothenbuhler Anya , Linglart Agnes , Bouvattier Claire

Context: We previously observed that continuous subcutaneous infusion (CSI) of gonadotropins in infants with congenital hypogonadotropic hypogonadism (CHH) can mimic the hormonal pattern of minipuberty.Objective: Describe the peripubertal outcome in gonadotropins CSI treated patients.Patients: A retrospective study was realised in Bicetre Hospital between 2004 and 2022. Follow-up d...

hrp0089rfc7.5 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Alteration of Renal Corticosteroid Signaling Pathways in Preterm Infants: Neonatal Adaptation and Developmental Programming of Hypertension

Dumeige Laurence , Nehlich Melanie , Lhadj Christophe , Viengchareun Say , Xue Qiong-Yao , Pussard Eric , Lombes Marc , Martinerie Laetitia

Introduction: Prematurity, a worldwide health issue, is often associated with renal tubular immaturity leading to major salt loss, whose mechanisms remain poorly understood. Moreover, these premature infants are prone to develop hypertension early in adulthood.Objective: To study the ontogenesis of renal mineralocorticoid and glucocorticoid signaling pathways in preterm infants and to evaluate their respective role during neonatal adaptation and in the e...