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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 1

Adrenals and HPA Axis (2)

hrp0092p1-296 | Adrenals and HPA Axis (2) | ESPE2019

Three Novel Mutations of the StAR Gene in Five Algerian Patients Presenting with Classical and Non-Classical Lipoid Adrenal Hyperplasia

Ladjouze Asmahane , Mallet Delphine , Demdoum Mohamed , Bouzerar Zair , Morel Yves , Roucher-Boulez Florence

Background: StAR deficiency is a rare cause of primary adrenal insufficiency (PAI), with fewer than 100 cases reported worldwide. The first patients to be described suffered from severe forms of lipoid adrenal hyperplasia leading to severe undervirilization in 46,XY foetuses. More recently, however, less severe forms, known as "non-classical" or "atypical lipoid adrenal hyperplasia", presenting with PAI with salt wasting (SW) syndrome and norma...

hrp0092p1-297 | Adrenals and HPA Axis (2) | ESPE2019

A Novel Compound Heterozygous Mutation in the CYP11B2 Gene, Including an Intron 7 Splice Site, is Responsible for Aldosterone Synthase Deficiency Type II

Zhu Jianfang , Chen Hong , Wang Chunlin , Fang Yanlan , Kong Yuanmei , Liang Li

Objective: To investigate the clinical and molecular characteristics of a girl with aldosterone synthase deficiency type II (ASDII). We also identified the consequences of a novel splice site mutation in the CYP11B2 gene.Materials and Methods: A4-month-old girl presented with vomiting, diarrhea, and failure to thrive. Her 17α-OHP, cortisol, renin, and aldosterone were all in the normal range, and the ACTH stimulatio...

hrp0092p1-298 | Adrenals and HPA Axis (2) | ESPE2019

First Morning Pregnanetriol and 17-Hydroxyprogesterone Correlated Significantly Each Other with in 21-Hydroxylase Deficiency

Itonaga Tomoyo , Izawa Masako , Hamajima Takashi , Hasegawa Yukihiro

Background: Biochemically monitoring 21-hydroxylase deficiency (21OHD) treatment is challenging. Serum/blood 17-hydroxyprogesterone (17OHP) measurements, especially in the early morning before medication, are traditionally used for this purpose. Urinary pregnanetriol (PT), a urinary metabolite of 17OHP, may also be used. Based on auxological data, we previously reported that the first morning PT value in the range of 2.2–3.3 mg/gCr is optimal for monitori...

hrp0092p1-299 | Adrenals and HPA Axis (2) | ESPE2019

Medical Identification Jewellery Use in Children and Young Adults with Adrenal Insufficiency

Chrisp Georgina , Falhammar Henrik , Quartararo Maria , Torpy David , Rushworth R. Louise

Background: Adrenal insufficiency (AI) is a rare disorder in the paediatric population. Patients are at risk of an adrenal crisis (AC), which comprises hypotension, acute abdominal symptoms, reduced consciousness, hypoglycaemia, hyperkalaemia and hyponatremia. Immediate administration of parenteral hydrocortisone is essential to prevent AC progression but delays may occur when health attendants are unaware of the underlying AI diagnosis. Medical jewellery is a...

hrp0092p1-300 | Adrenals and HPA Axis (2) | ESPE2019

Growth Trajectory and Final Height in Children with Non Classical Congenital Adrenal Hyperplasia

Wasniewska Malgorzata , Morabito Letteria Anna , Baronio Federico , Einaudi Silvia , Salerno Maria Carolina , Bizzarri Carla , Russo Gianni , Chiarito Mariangela , Grandone Anna , Guazzarotti Laura , Spinuzza Antonietta , Di Carlo Silvia , Ortolano Rita , Balsamo Antonio , Abrigo Enrica , Ferroli Barbara Baldini , Alibrandi Angela , Capalbo Donatella , Faienza Maria Felicia

Background: Subjects with non classical congenital adrenal hyperplasia (NCCAH) often present an increased growth velocity secondary to elevation of adrenal androgens that promote early bone maturation and compromise final height (FH). The aim of the study was to analyze prognostic factors affecting growth trajectory and FH in children with NCCAH.Design: retrospective, multicentric studyStud...

hrp0092p1-301 | Adrenals and HPA Axis (2) | ESPE2019

Height in Infants Aged 1 Year with Classic Congenital Adrenal Hyperplasia is Related to their Urinary Steroid Metabolome

Kamrath Clemens , Friedrich Clemens , Hartmann Michaela F. , Wudy Stefan A.

Background: Controlling therapy of infants, especially from neonates onwards, with classic congenital adrenal hyperplasia (CAH) is challenging due to the lack of reference values.Methods: We retrospectively analyzed 158 spot urinary steroid hormone metabolite profiles determined by gas chromatography–mass spectrometry (GC-MS) of 60 infants aged 0–4.2 years with classic 21-hydroxylase deficiency (21-OHD) on hydr...

hrp0092p1-302 | Adrenals and HPA Axis (2) | ESPE2019

MIRAGE Syndrome, a Novel Syndromic form of Primary Adrenal Insufficiency

Chin Xinyi , Sreedharan Aravind Venkatesh , Ting Teck Wah , Vasanwala Rashida Farhad

Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening disease. When this happens very early in life, genetic causes should be considered. Here, we report a newborn who presented with hyperkalemia, hyponatriemia, hypoglycaemia and generalised hyperpigmentation, and was found to have primary adrenal insufficiency. This child also had concurrent issues of poor growth, sepsis and persistent pancytopenia. She was eventually diagnosed with MIRAGE syndrome (M...

hrp0092p1-303 | Adrenals and HPA Axis (2) | ESPE2019

Hypothalamo-Pituitary-Adrenal (HPA) Axis in Infants Exposed to Corticosteroids During Fetal Life

Auriche Morgane , Houang Muriel , Giabicani Eloise , Mitanchez Delphine , Netchine Irène

Background: Prednisolone, prednisone, and hydrocortisone, are used during pregnancy, in women with thrombocytopenia, auto immune or inflammatory diseases. The current belief speculates on the absence of adverse effects on the hypothalamo-pituitary-adrenal (HPA) axis of the fetus, thanks to placental 11BHSD2 inactivation.Objective and Hypotheses: We analyzed the results of ATCH tests routinely performed in neonates expose...

hrp0092p1-304 | Adrenals and HPA Axis (2) | ESPE2019

Identification of Novel and Rare CYP21A2 Variants in Chinese Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Xu Jing , Li Pin

Objective: 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia due to CYP21A2 gene mutation. The aim of study is to expand CYP21A2 mutational spectrum in the Chinese population and to provide novel genetic information in terms of ethnic diversity.Methods: 95 Chinese suspected 21-OHD patients with phenotypes varying from salt-wasting (SW) to nonclassic symptoms w...

hrp0092p1-305 | Adrenals and HPA Axis (2) | ESPE2019

Clinical Manifestations & Molecular Analysis of Four Palestinian Patients with Pseudohypoaldosteronism Type 1 (PHA 1) Revealing Four Novel Mutations in the ENaC Subunit Genes

Abu-Libdeh Abdulsalam , Abedrabbo Amal , Abu-Libdeh Bassam

Objectives: Pseudohypoaldosteronism type 1(PHA 1) is a rare hereditary disorder characterized by resistance to the actions of aldosterone. Two different modes of inheritance with different mechanisms and clinical manifestations have been described, Autosomal recessive that affects the epithelial sodium channel (ENaC),the defect is permanent and affects all aldosterone target organs. Autosomal dominant or sporadic PHA 1, affects the mineralocorticoid receptor i...

hrp0092p1-306 | Adrenals and HPA Axis (2) | ESPE2019

Genotype-Phenotype Correlation and Clinical Findings in 145 Patients with Congenital Adrenal Hyperplasia: Single Centre Experience

Cilsaat Gizem , Toksoy Guven , Bas Firdevs , Karaman Birsen , Poyrazoglu Sukran , Uyguner Oya , Basaran Seher , Altinoglu Umut , Darendeliler Feyza

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis.Aim: The purpose of this study was to investigate genotype-phenotype correlation, clinical findings and long-term outcomes in patients with CAH due to 11β-hydroxylase deficiency (11β-OHD) and 21-hydroxylase deficiency (21-OHD).Paients and methods...

hrp0092p1-307 | Adrenals and HPA Axis (2) | ESPE2019

"CAH-X" Due to Homozygous Deletions of CYP21A2 and TNXB Exon 35 in a Newborn from the 17 OHP Screening

Stoeva Iva , Mihova Kalina , Georgieva Raliza , Vlahova Diana , Diankova Diana , Dimitrova-Dasheva Anna , Pramatarova Tania , Kaneva Radka

The CYP21A2 and the TNXB genes are highly homologous with their corresponding pseudogenes (CYP21A1P and TNXA), leading to frequent homologous recombination. The TNXB includes 43 exons, the mRNA encodes tenascin-X (TNX), an extracellular matrix glycoprotein, highly expressed in connective tissue.CAH patients with a "contiguous gene syndrome" comprising a deletion of both genes- CYP21A2 and TNXB have been described. Chimeric genes generated by larg...