hrp0089rfc13.2 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Growth Outcomes and Near Adult Height of Children with Congenital GH Deficiency (GHD) due to Abnormal Pituitary Development: Data from a Prospective, Multinational Observational Study

Child Christopher , Leger Juliane , Deal Cheri , Benabbad Imane , Jia Nan , Blum Werner

Background: Children with structural hypothalamic-pituitary anomalies, e.g. ectopic posterior pituitary (EPP) with/without pituitary stalk interruption syndrome, septo-optic dysplasia (SOD), and isolated anterior pituitary aplasia/hypoplasia (AP/HP) usually have more severe GHD and better auxological outcomes with GH therapy than those with normal hypothalamic-pituitary magnetic resonance imaging findings. However, adult height data is limited.Objective:...

hrp0089rfc14.3 | Multisystem Endocrine Disorders | ESPE2018

Dysregulated Glucose Homeostasis in Congenital Central Hypoventilation Syndrome

Musthaffa Yassmin , Goyal Vikash , Harris Margaret-Anne , Kapur Nitin , Leger Juliane , Harris Mark

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of respiratory control resulting from heterozygous polyalanine repeat expansions within the Paired-Like Homeobox 2B (PHOX2B) gene. A hypoglycaemic seizure in a 4-year-old girl with CCHS, lead to a more detailed examination of glycaemic control in a cohort of children with CCHS.Objective: To describe glucose homeostasis in children with CCHS.M...

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-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...

hrp0086p2-p772 | Pituitary and Neuroendocrinology P2 | ESPE2016

Brain MRI in Evaluation of Endocrine Diseases of Childhood: Causal and Incidental Lesions

Selbonne Emilie , Martinerie Laetitia , Leger Juliane , Elmaleh Monique , Sebag Guy , Carel Jean-Claude

Background: Brain MRI is an essential tool in the diagnosis of neuroendocrine disorders and aims at detecting anatomical abnormalities and tumors. However, it may lead to the identification of unrelated or questionably related abnormalities in the hypothalamic-pituitary region and/or the rest of the brain parenchyma.Objective and hypotheses: To establish the prevalence of causal lesions on brain MRI of children evaluated for hypopituitarism, assess the f...

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...

hrp0082fc4.5 | Growth | ESPE2014

Fetal and Postnatal Growth in Turner Syndrome and their Associations with the Dosage Effects of the X-Linked Gene: a Cross-Sectional Data Base Analysis of the French National Rare Disease Network

Zenaty Delphine , Fiot Elodie , Santos Sophie Dos , Boizeau Priscilla , Haignere Jeremie , Leger Juliane , and the French Turner Syndrome Study Group

Background: Shox gene, located on the short arm (p) of the X chromosome, is expressed in the growth plate cartilage in pre and post natal life. Whereas the dose dependent association between the number of active copies of the SHOX gene and height is well established, studies addressing a more subtle variability between the quality of fetal growth, the severity of post natal height deficit and karyotype subgroups in Turner syndrome (TS) are still limited....

hrp0082p1-d2-251 | Thyroid (1) | ESPE2014

Triiodothyronine-Predominant Graves’ Disease (T3-P-GD): Description and Management in Childhood

Harvengt Julie , Boizeau Priscilla , Zenaty Delphine , Paulsen Anne , Simon Dominique , Crepon Sophie Guilmin , Alberti Corinne , Carel Jean-Claude , Leger Juliane

Background: T3-P-GD, a severe, rare disorder well known in adults, has not previously been described in children. It is characterized by persistently high serum fT3 concentration and normal, or even low, fT4 concentration during drug treatment. This condition is associated with very high titers of TRAb and large goiters, but its pathogenesis remains unclear. The recognition of this form of GD in children is of particular importance, as higher antithyroid ...

hrp0082p2-d2-468 | Growth (1) | ESPE2014

Successful GH Treatment for Severe Growth Failure in Paediatric Patients with Anorexia Nervosa

Fjellestad-Paulsen Anne , Bargiacchi Anne , Doyen Catherine , Raverdy Cecile , Carel Jean-Claude , Leheuzey Marie-France , Leger Juliane

Background: Anorexia nervosa (AN), a state of chronic nutritional deprivation prevalent in children and young adolescents, is associated with major changes to the hypothalamic–pituitary axis including the GH–IGF1 axis, thyroid function, hypercortisolemia, and hypogonadotropic–hypogonadism, with delayed puberty and a low growth velocity (GV) at a time critical for the pubertal growth spurt, potentially affecting adult height. The effects of supraphysiological hum...

hrp0084p1-141 | Turner &amp; Puberty | ESPE2015

Adult Height after Growth Hormone Treatment and its Association with X Chromosome Dosage in Turner Syndrome: a Cross-Sectional Database Analysis of the French National Rare Disease Network

Fiot Elodie , Zenaty Delphine , Boizeau Priscilla , Haignere Jeremie , Santos Sophie Dos , Leger Juliane , FrenchTurner Syndrome Study Group

Background: In Turner syndrome (TS), Shox haploinsufficiency accounts largely, but not entirely, for the short stature of patients, which has been estimated at a mean loss of 20 cm with respect to target height. GH treatment has been shown to improve adult height (AH), although individual outcomes vary markedly. Little is known about the relationship between the dosage effects of the X-linked gene and responsiveness to GH.Objective: To determine whether ...