hrp0086p2-p61 | Adrenal P2 | ESPE2016

Severe Neonatal Cushing Syndrome with Multi-Organ McCune Albright Manifestations

Sophie Lambert Anne , Rothenbuhler Anya , Durand Philippe , Bougneres Pierre

Background: Reports of Cushing syndrome during the first month of life are rare. Mortality is high, despite medical (metyrapone) or surgical (adrenalectomy) treatment.Objectives: To report a new neonatal case of Cushing due to McCuneAlbright syndrome (MAS).Patient and results: Although a healthy baby at age 10 days, a newborn girl presented with sudden manifestations within the following 2 weeks: facial and truncal plethora, severe...

hrp0084p1-109 | Perinatal | ESPE2015

Continuous Subcutaneous Infusion of Recombinant LH and FSH During Early Infancy Promotes Testicular Descent in Congenital Hypogonadotropic Hypogonadism

Lambert Anne Sophie , Lucchini Philippe , Bouvattier Claire , Bougneres Pierre

Context: Cryptorchidism, a common consequence of HH, is treated with orchiopexy. We previously observed that continuous subcutaneous infusion of gonadotropins restored normal serum testosterone and inhibin B concentrations in two infants with hypogonadotropic hypogonadism (HH) and was associated with testicular descent in one.Objective: Test if subcutaneous gonadotropin infusion within the first year of life can allow testicular descent in eight boys wit...

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...

hrp0082p2-d3-620 | Turner Syndrome | ESPE2014

Turner Syndrome: Analysis of Changes in the Age at Diagnosis and Phenotypic and Genotypic Description of 174 Patients

Auger Julie , Oussalah Abderrahim , Lambert Laetitia , Vigneron Jacqueline , Jonveaux Philippe , Leheup Bruno

Background: Turner syndrome, characterized by complete or partial absence of second sexual chromosome, is responsible for phenotype of variable severity.Objective and hypotheses: The main objective of this work is to describe the evolution of the age at diagnosis of Turner syndrome over time. We also performed a phenotypic and genotypic description and we assessed evolution over time.Method: It is a monocentric descriptive observat...

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...

hrp0094p1-181 | Pituitary B | ESPE2021

Continuous versus discontinuous administration of gonadotropin in neonates with congenital hypogonadotropic hypogonadism

Avril Tristan , Hennocq Quentin , Lambert Anne-Sophie , Simon Dominique , Leger Juliane , Martinerie Laetitia , Bouvattier Claire ,

Context: Newborns with Congenital hypogonadotropic hypogonadism (CHH) have an impaired postnatal activation of the gonadotropic axis. Substitutive therapy with recombinant gonadotropins can be proposed to mimic physiological male mini-puberty during the first months of life.Objective: To retrospectively compare the clinical (penile size, volume and testicular descent) and biological efficacy (serum concentrations of test...