hrp0092rfc5.4 | Thyroid | ESPE2019

Thyroid Dysfunction in Patients Following Thymus Transplantation in a Tertiary Centre: A 10-Year Experience

Aftab Sommayya , Goff Nicole , Langham Shirley , Amin Rakesh , Hindmarsh Peter , Brain Caroline , Shah Pratik , Spoudeas Helen , Dattani Mehul , Worth Austen , Katugampola Harshini , Peters Catherine

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. Autoimmune thyroid dysfunctions (Hashimoto's thyroiditis and Graves' Disease) are described in the literature as the most common autoimmune disease after thymic transplant.<p class="...

hrp0089fc11.6 | Bone, Growth Plate &amp; Mineral Metabolism 2 | ESPE2018

Management of Severe, Protracted Hypocalcaemia in Patients Undergoing Thymus Transplantation in a Tertiary Centre: A 10-Year Experience

Goff Nicole , Katugampola Harshini , Monti Elena , Taylor Katherine , Amin Rakesh , Hindmarsh Peter , Peters Catherine , Pratik Shah , Spoudeas Helen , Dattani Mehul , Allgrove Jeremy , Brain Caroline

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. These conditions may also be associated with hypoparathyroidism and patients are therefore at risk of severe hypocalcaemia. There are no published guidelines for calcium replacement in these patients during the ...

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...

hrp0089p2-p348 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Revisiting the Diagnosis: Next Generation Sequencing (NGS) Identifies Concurrence of PAIS in a Previously Reported Case of Klinefelter Syndrome (47,XXY) with Hypospadias

Mohamed Zainaba , Allen Stephanie , Bounford Kirsten McKay , Idkowiak Jan , Godber Caroline , Chandran Harish , McCarthy Liam , Cole Trevor , Kirk Jeremy , Krone Nils

Background: Klinefelter syndrome (KFS) is a sex chromosomal disorder characterised by hypogonadism, progressive testicular failure, gynaecomastia and learning difficulties. Genital anomalies are rarely observed in KFS. Androgen insensitivity has been previously postulated, but not proven to cause genital ambiguity in KFS. Androgen receptor (AR) gene defects are reported in AIS, but have not been reported in children with KFS with mild hypospadias. We describe a novel ...

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-p339 | Gonads &amp; DSD P1 | ESPE2016

Global and Sexual Quality of Life in Patients with Rokitanski Syndrome: A Comparative Study Between Surgical vs Non Surgical Management of Vaginal Agenesis in a French Cohort of 130 Patients

Bidet Maud , Cheikhelard Alaa , Christine Louis-Sylvestre , Jean Paniel Bernard , Karine Morcel , Magali Viaud , Amandine Baptiste , Caroline Elie , Yves Aigrain , Michel Polak

Background: Vaginal agenesis (VA) in MRKH syndrome can be managed either by surgery or autodilatations.Objective and hypotheses: To compare different managements of MRKH-VA in terms of quality of life, sexual function, anatomical results and complications.Method: National Multicentric observationnal study including 130 patients older than 18, at least one year after completing VA management, from October 2012 to April 2015. 84 had ...

hrp0086p1-p354 | Gonads &amp; DSD P1 | ESPE2016

Psychological Impact in Young Women of Announcement of a Utero-Vaginal Malformation (Mayer-Rokitansky-Küster-Hauser – MRKH Syndrome) and its Treatment

Gueniche Karinne , Ouallouche Chloe , Nataf Nicole , Bidet Maud , Cheikhelard Alaa , Paniel Bertrand-Jean , Louis-Sylvestre Christine , Morcel Karine , Viaud Magali , Elie Caroline , Baptiste Amandine , Aigrain Yves , Polak Michel

Background: Few studies have addressed the question of psychological impact and long term outcomes in MRKH patients.Objective and hypotheses: Our national multi-centric study aimed to assess MRKH patients’ experience concerning diagnostic announcement, treatment perception, impact on psychic functioning, socio-professional integration, affective and sexual life and quality of life.Method: First 40 MRKH patients aged 19–34...

hrp0086p1-p688 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Thyrotoxicosis, Nephrogenic Syndrome of Inappropriate Antidiuresis, Tall Stature and Mental Retardation Caused by a Novel GNAS Gain of Function Mutation

Houang Muriel , Kottler Marie-Laure , Bensman Albert , Haymann Jean-Philippe , Richard Nicolas , Dunand Olivier , Bastepe Murate , Silve Caroline , Coudray Nathalie , Netchine Irene , Linglart Agnes

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

hrp0082p1-d3-102 | Sex Development | ESPE2014

Four Cases of Isolated Partial Gonadal Dysgenesis Due to nr0b1 (dax1) Locus Duplication Inherited in a Large Family

Mahler Kathy Wagner , Devos Caroline , Kurzenne Jean Yves , Gastaud Frederique , Hoflack Marie , Mallet Delphine , Benailly Houda Karmous , Giuliano Fabienne , Simonin Gilbert , Sanlaville Damien , Morel Yves

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype associated with primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Objective and hypotheses: Phenotype correlation study (clinical, hormonal, and histol...

hrp0082p2-d1-259 | Adrenals &amp; HP Axis | ESPE2014

Inadequate Cortisol Response to Tetracosactide (Synacthen®) Test in NCCAH Patients, an Exception to the Rule?

Stoupa Athanasia , Briceno Laura Gonzalez , Pinto Graziella , Samara-Boustani Dinane , Flechtner Isabelle , Thalassinos Caroline , Bidet Maud , Simon Albane , Morel Yves , Bellanne-Chantelot Christine , Touraine Philippe , Polak Michel

Background: Non-classical congenital adrenal hyperplasia (NCCAH) may present during childhood, adolescence or even adulthood with various degrees of hyperandrogenism. Diagnosis is established through tetracosactide (Synacthen®) test and genotyping. Cortisol insufficiency has rarely been described in NCCAH.Objective and hypotheses: To describe cortisol response to tetracosactide test in NCCAH patients.Method: Retrosp...