hrp0089p2-p390 | Thyroid P2 | ESPE2018

Multinodular Goiter in Childhood: Look for DICER1 Mutation

Suteau Valentine , Isabelle Souto , Natacha Bouhours-Nouet , Maryam Azgal , Justine Bailleul , Marie-Neige Campas , Aurelie Donzeau , Patrice Rodien , Regis Coutant

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...

hrp0086p2-p844 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth Screening in Children Aged Three to Five Years Seen in Community Paediatrics in Dreux District, France: Preliminary Results

Kayemba-Kay's Simon , Brin Isabelle , Nicot Florence , Maillet Odile , Roudiere Jean-Louis , Nicola Luigi Di , Heron Anne

Background: Over 90% children grow normally, and attain final height within their genetic target. Up to 10% of all children do not spontaneously catch-up by the age 3 years, besides some cases of TS are diagnosed late, and others with SGA go undiagnosed and unattended.Objectives & Hypothesis: Early screening of growth patterns in children attending Child Protection Visits (PMI, France) in Dreux district. Our objective was the evaluation of prevalence...

hrp0084p3-1101 | Pituitary | ESPE2015

Baseline Characteristics, GH Response, and Long term Evolution in 67 Patients with Pituitary Stalk Interruption According to the Initial Presentation

Bar Celine , Zadro Charline , Diene Gwenaelle , Oliver Isabelle , Pienkowski Catherine , Jouret Beatrice , Audrey Cartault , Sevely Annick , Tauber Maithe , Edouard Thomas

Background: Pituitary stalk interruption syndrome (PSIS) is a frequent cause of congenital hypopituitarism. Patients are initially referred for the evaluation of hypoglycemia during the neonatal period or growth retardation during infancy or childhood. PSIS are either associated with extra-pituitary malformations (EPM+) or isolated (EPM−).Objective and hypotheses: To compare baseline characteristics, GH response, and long term evolution in patients...

hrp0095p2-144 | GH and IGFs | ESPE2022

Growpati Study: Clinical and genetic characterization of a cohort of patients with short stature due to severe primary IGF1 deficiency

Stoupa Athanasia , Flechtner Isabelle , Viaud Magali , Pinto Graziella , Samara-Boustani Dinane , Gonzalez-Briceno Laura , Thalassinos Caroline , Amselem Serge , Legendre Marie , Netchine Irene , Brioude Frederic , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of short stature. Diagnosis is based on low basal IGF1 concentration, short stature, normal or elevated growth hormone concentrations and absence of any secondary causes of growth failure. Thanks to advances in next-generation sequencing (NGS) technologies, genetic etiology of SPIGF1D is expanding.Objectives: • Identify th...

hrp0095p2-270 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

What lessons from past history of patients with CAH in a Sub Saharan country?

Sap Suzanne , Mbono Ritha , Kamo Hélène , Tony Jocelyn , Eposse Charlotte , Epee Jeannette , Mekone Isabelle , Bodieu Adèle , Olivier Koki Paul

Introduction: Congenital adrenal hyperplasia is the most common cause of primary adrenal insufficiency. It is a rare monogenic recessive disorder. In African setting in absence of neonatal screening, the diagnosis is still late, based on a clinical approach. During this clinical enquiry, information form past history or pedigree of the patient are of a huge importance and may revealed surprisesPatients and methods: In th...

hrp0092fc8.5 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

LGR4-Wnt β-Catenin Signalling Directs GnRH Network Development, with Defects Leading to Self-Limited Delayed Puberty

Mancini Alessandra , Howard Sasha R. , Cabrera Claudia P. , Barnes Michael R. , David Alessia , Wehkalampi Karoliina , Vassart Gilbert , Cariboni Anna , Garcia Marie Isabelle , Guasti Leonardo , Dunkel Leo

Background: The initiation of puberty is dependent upon an augmentation of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Development of the GnRH neuroendocrine network in embryonic life depends on coordinated migration of neurons from the vomeronasal organ in the nose to the forebrain. We have previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the ...

hrp0089p3-p006 | Adrenals and HPA Axis P3 | ESPE2018

An Adrenal Tumor Ppresenting as a Premature Pubarche in a 7 Year-old Girl

Marie-Neige Campas-Lebecque , Isabelle Souto , Stephanie Proust , Marc-David Leclair , Valentine Suteau , Justine Bailleul , Maryam Azgal , Natacha Bouhours-Nouet , Regis Coutant

Introduction: Premature pubarche is the most frequent diagnosis when children present moderate pubic hair development, but other diagnosis must be ruled out. We report the case of a child with premature pubarche with hormonal results in the physiological range, corresponding to an adrenal tumor.Observation: A girl aged 6.8 years consulted for precocious pubertal development (pubic hair stage 3, breast stage 2), with moderate acne. There was no virilizati...

hrp0089p3-p068 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Frontal Behavior Dysfunctions Revealing a Dramatic Progression of Complex Cranial Base Abnormalities in a Severe Osteogenesis Imperfecta

Porquet-Bordes Valerie , Grandgeorge Naia , Moulin Pierre , Cheuret Emmanuel , Boetto Sergio , Sales De Gauzy Jerome , Gennero Isabelle , Tauber Maite , Edouard Thomas , Salles Jean Pierre

Background: In our bone unit, we were following since their younger age, two brothers with a severe osteogenesis imperfecta. We had no genetic confirmation but the severity of the disease combined with unaffected consanguine parents argues for a recessive autosomal transmission. Both present with highly severe form of osteogenesis imperfecta: repeated vertebral and peripheral fractures, long bone deformations, centromedullary nails on the lower limbs, major motor handicap and ...

hrp0089p2-p293 | Multisystem Endocrine Disorders P2 | ESPE2018

What is the Impact of a Structured Healthcare Pathway Dedicated to Patients in Transition on Their Long-term Follow-up?

Menesguen Florence , Tejedor Isabelle , Malivoir Sabine , Faucher Pauline , Halbron Marine , Popelier Marc , Leger Juliane , Netchine Irene , Polak Michel , Bruckert Eric , Poitou Christine , Touraine Philippe

Management of patients presenting a chronic endocrine or metabolic disease during transition period is a challenge for multiple reasons. The department of Adult Endocrinology and Reproductive Medicine in Pitie Salpêtrière Hospital, Paris has been involved in the management of such patients for many years. However, in our own experience, 81% of patients are still followed-up after 1 year, 71% after 3 years and only 49% after 5 years. Based on such experience, we decid...

hrp0082p1-d1-138 | Growth | ESPE2014

A Novel Homozygous Mutation of the IGF1 Receptor Gene (igf1r) in Two Siblings with Severe Short Stature, Intellectual Disability, Congenital Malformations, and Deafness

Maystadt Isabelle , Andrew Shayne F , De Schepper Jean , Wauters Nathalie , Mortier Geert , Benoit Valerie , Joset Pascal , Oneda Beatrice , Rosenfeld Ron G , Rauch Anita , Hwa Vivian

Background: Heterozygous mutations in the IGF1 receptor (IGF1R) are often associated with congenital IGF1 resistance, causing variable degrees of intrauterine growth retardation (IUGR) and postnatal short stature. To date, only one homozygous IGF1R mutation has been reported, in a child presenting with severe growth failure, mild intellectual impairment, microcephaly, dysmorphic features, and cardiac malformations.Objective: We now repo...