hrp0086p1-p724 | Pituitary and Neuroendocrinology P1 | ESPE2016

Estimating the Psychosocial Impact of Idiopathic Central Precocious Puberty (ICPP) in Girls Aged 6 to 8 Years: A Qualitative Study

Vasse Camille , Teixeira Maria , Paulsen Anne , Malivoir Sabine , Samara-Boustani Dinane , Carel Jean-Claude , Simon Dominique

Background: Emotional and behavioural problems are often used in support of GnRH agonists therapy in girls with early pubertal timing. However, there is little evidence to show that CPP leads to psychological distress and whether treatment is associated with improved psychological outcome.Objective and hypotheses: The objective of this qualitative study was to explore the psychosocial impact of ICPP in recently diagnosed girls.Meth...

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...

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 ...

hrp0092rfc3.2 | Multi-system Endocrine Disorders | ESPE2019

Factors Affecting Loss to Follow-Up for Patients with Chronic Endocrine Conditions During the Pediatric Period: A Cohort Study at a Reference Center for Rare Diseases

Atger-Lallier Laura , Guilmin-Crepon Sophie , Boizeau Priscilla , Zenaty Delphine , Simon Dominique , Paulsen Anne , Martinerie Laetitia , Storey Caroline , Carel Jean-Claude , Leger Juliane

Introduction: Most patients with endocrine diseases diagnosed during childhood require long-term continuity of care. A lack of regular medical follow-up visits may be associated with impaired long-term health outcomes, with greater risks of morbidity and mortality. The importance and challenges of the transition from pediatric to adult healthcare are well recognized, but few studies have considered loss to follow-up during pediatric care. We investigated the p...

hrp0089rfc9.5 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Non-Isolated Central Precocious Puberty: Prevalence of Brain Lesions and Other Associated Disorders

Wannes Selmen , El Maleh Monique , De Roux Nicolas , Zenaty Delphine , Simon Dominique , Martinerie Laetitia , Storey Caroline , Gelwane Georges , Paulsen Anne , Ecosse Emmanuel , Jean-claude Carel , Juliane Leger

Background: Non-idiopathic central precocious puberty (CPP) is caused by acquired or congenital hypothalamic lesions visible on magnetic resonance imaging (MRI), or associated with various complex genetic and/or syndromic disorders without visible lesions on MRI. We investigated the different types and prevalences of non-isolated CPP phenotypes in a large group of consecutive patients with CPP.Methods: This observational cohort study included all patient...

hrp0089p1-p248 | Thyroid P1 | ESPE2018

Early Determinants of Thyroid Function Outcome in Children with Congenital Hypothyroidism and a Normally Located Thyroid Gland: A Regional Cohort Study

Saba Carole , Guilmin-Crepon Sophie , Zenaty Delphine , Martinerie Laetitia , Paulsen Anne , Simon Dominique , Santos Sophie Dos , Haignere Jeremy , Mohamed Damir , Jean-Claude Carel , Juliane Leger

Background: An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. We aimed to determine the prevalence of transient CH and to assess the possibility of distinguishing between transient and permanent CH in early infancy.Methods: This observational cohort study included all patients identified by systemat...

hrp0089p2-p382 | Thyroid P2 | ESPE2018

Neonatal Monitoring of Newborns Born from Mothers with Graves’ Disease: Results of a Retrospective Monocentric Study

Dumaine Cecile , Crepon Sophie Guilmin , Pages Justine , Chevenne Didier , Rosenblatt Jonathan , Storey Caroline , Martinerie Laetitia , Carel Jean-Claude , Zenaty Delphine , Leger Juliane , Simon Dominique

Background: Neonates born from mothers with Graves’ disease are at risk to develop hyperthyroidism due to placental transmission of TSH-receptor antibodies. Neonatal hyperthyroidism should be effectively diagnosed and treated to prevent severe complications of this disease (cardiac symptoms, poor weight gain, severe neurological manifestations).Objectives: To describe the post-natal follow-up of neonates born from women with Graves’ disease.</p...

hrp0086p1-p739 | Pituitary and Neuroendocrinology P1 | ESPE2016

Evaluation of Puberty in Children with Sickle Cell Anemia: A Case Control Study in Yaounde, Cameroon

Mbono Betoko Ritha Carole , Sap Ngo Um Suzanne , Alima Yanda Anastasie , Chelo David , Ngo Sack Francoise , Tony Nengom Jocelyn , Simon Dominique , Chevenne Didier , Carel Jean Claude , Koki Ndombo Paul Olivier

Background: Puberty is reported to be impaired in children with Sickle cell Anemia (SCA). Studies about this topic are rare in Sub-Saharan regionObjective and hypotheses: Assessment of pubertal development of children with SCA compared to healthy children in Mother and Child Center, CHANTAL BIYA Foundation.Method: We matched a group of 64 children with SCA (26 males, 38 females) with 94 healthy controls aged of 8–17 years old....

hrp0082fc5.2 | Neuroendocrinology | ESPE2014

Mutations in the Maternally Imprinted Gene MKRN3 are a Frequent Cause of Familial Central Precocious Puberty

Mekhail Nancy , Ba Ibrahima , Simon Dominique , Paulsen Anne , Zenaty Delphine , Houang Muriel , Jesuran-Perelroizan Monique , de Filippo Gianpaolo , Salerno Maria Carolina , Carel Jean-Claude , Leger Juliane , de Roux Nicolas

Background: Recently, mutations in the maternally imprinted MKRN3 gene have been associated to familial idiopathic central precocious puberty (iPPC). The clinical phenotype and the frequency of these mutations are poorly described.Objective and hypotheses: Delineate the frequency of MKRN3 mutations in iPPC and perform a genotype–phenotype correlation in MKRN3 mutated patients.Method: 59 index cases with iPPC have been included...

hrp0086fc3.3 | Pituitary | ESPE2016

Contribution of GLI2 Mutations to Pituitary Deficits and Delineation of the Associated Phenotypic Spectrum

Cohen Enzo , Pham Aurelie , Dastot Florence , Collot Nathalie , Afenjar Alexandra , Carel Jean-Claude , Furioli Jean , Leger Juliane , Leheup Bruno , Mignot Brigitte , Naud-Saudreau Catherine , Nivot Sylvie , Polak Michel , Rappaport Raphael , Simon Dominique , Sizonenko Pierre , Vincent-Delorme Catherine , Zung Amnon , Amselem Serge , Legendre Marie

Background: GLI2 is a zinc-finger transcription factor of the SHH signaling pathway, expressed during ventral forebrain and pituitary development. GLI2 mutations account for microforms of dominant holoprosencephaly. So far, only 15 unambiguous mutations were found in hypopituitarism –essentially combined pituitary hormone deficiency (CPHD)– frequently associated with holoprosencephaly-like malformations and/or polydactyly.Objective and...