hrp0089p3-p398 | GH & IGFs P3 | ESPE2018

Recombinant Growth Hormone Therapy in Prepubertal Children with Idiopathic Short Stature in Korea: A Phase III Randomized Trial

Im Minji , Kim J , Suh B-K , Ko CW , Lee K-H , Shin CH , Hwang JS , Kim HS , Chung WY , Kim CJ , Han H-S , Kwon NY , Cho SY , Yoo H-W , Jin D-K

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

hrp0089p1-p194 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

A 7-Year Update Report of a National, Interdisciplinary Endeavour to Improve Outcomes for Children and Young People Under 19 Years of Age with Hypothalamic Pituitary Axis Tumours (HPAT) Using Multi-site Video Conferencing

Freund Katja , Malhorta Neha , Dastamani Antonia , Dorward Neil , Aquilina Kristian , Chang Yen-Ching , Mankad Kshitij , Pettorini Benedetta , Blair J Jo , Kamaly Ian , Clayton Peter E , Hargrave Darren , Korbonits Marta , Spoudeas Helen A

Background: Paediatric HPAT, though generally benign, incurs significant neuro-endocrine morbidity. Their management is unclear and the paediatric neuro-oncology or adult pituitary forum at which they are discussed lack pituitary or age-specific expertise respectively. The UK National HPAT Interest Group has pioneered a monthly, multi-site, interdisciplinary, video conferencing decision-making forum, to garner necessary experience and evidence of outcomes to assist worldwide r...

hrp0086fc7.1 | Gonads & DSD | ESPE2016

Early Loss of Germ Cells in Testis of Androgen Insensitivity Syndrome Patients

Aliberti Paula , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Solari Alberto J. , Sciurano Roberta , Ponzio Roberto , Costanzo Mariana , Guercio Gabriela , Warman Diana M. , Mutti Maria L. Galluzzo , Lubieniecki Fabiana , Bailez Marcela , Rivarola Marco A. , Belgorosky Alicia , Berensztein Esperanza B.

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

hrp0086fc12.3 | Neuroendocrinology | ESPE2016

Inactivating Mutations in CCDC141 Causing Idiopathic Hypogonadotrophic Hypogonadism/Kallmann Syndrome

Turan Ihsan , Hutchins B. Ian , Hacıhamdioglu Bulent , Ozbek Mehmet Nuri , Kotan Leman Damla , Ozkan Yusuf , Stoner Hudson , Cheng Paul J. , Gurbuz Fatih , Mengen Eda , Yuksel Bilgin , Wray Susan , Topaloglu Kemal

Background: GnRH neurons originate outside the CNS in the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary–gonadal axis (HPG).Objective and hypotheses: We hypothesize that gene(s), whose products are important for pubertal development can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH)/...

hrp0084fc1.2 | Adrenal | ESPE2015

Involvement of the Wnt/β-catenin Pathway, SF1, DAX1 and Stem/Progenitor Cell Markers in Paediatric Adrenocortical Tumors

Cavalcanti Marcelo M , Leal Leticia F , Coelli Fernanda B , Scrideli Carlos A , Molina Carlos A F , Tucci Silvio , Martinelli Carlos E , Yunes Jose A , Mastellaro Maria J , Moreira Ayrton C , Ramalho Leandra N , Castro Margaret , Antonini Sonir R

Background: Activation of the Wnt/β-catenin pathway is frequent in adrenocortical tumors (ACTs). This pathway and DAX1, a negative regulator of SF1 expression, control adrenal stem/progenitor cells, which can be involved in ACTs formation.Objective: To analyse the association between the Wnt/β-catenin pathway and the expression of a stem cell marker (NANOG), STAT3, DAX1 and SF1 in ACTs.Methods: Patients:...

hrp0084fc1.6 | Adrenal | ESPE2015

An Update on Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-free Foetal DNA in Maternal Plasma

New Maria , Tong Yu , Jiang Peiyong , Pina Christian , Chan K C Allen , Khattab Ahmed , Liao Gary J W , Yau Mabel , Kim Se-Min , Chiu Rossa W K , Sun Li , Zaidi Mone , Lo Y M Dennis

Background: Congenital adrenal hyperplasia (CAH) arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. Currently employed chorionic villus sampling and amniocentesis provide genetic results at ~14 weeks of gestation at the earliest. At this time, the genitalia of the affected female foetuses have already become virilized. To prevent genital ambiguity, prenatal treatment with dexamethasone must begin on or before gestational ...

hrp0084p1-128 | Thyroid | ESPE2015

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor α Mutations

Demir Korcan , van Gucht Anja , Buyukinan Muammer , Catli Gonul , Ayhan Yavuz , Bas Veysel Nijat , Dundar Bumin Nuri , Ozkan Behzat , Meima Marcel E , Visser W Edward , Peeters Robin P , Visser Theo J

Background: Recently, T3 receptor alpha (TRα) mutations have been identified in a number of patients with varying degrees of growth impairment, delayed development, constipation, increases in serum T3 and decreases in T4 and rT3.Objective: To determine the spectrum of clinical and functional consequences of novel TRα mutations.Method: Clinical assessment and biochemical, imaging...

hrp0084p2-278 | Diabetes | ESPE2015

Neonatal Diabetes – Experience from a Single Centre in Sri Lanka

Atapattu Navoda , Vithanage Vasundara , de Silva Kirikankanange Shamya Harshini , de Silva Daham Haresha , Jayathilaka Mala Mangalika , Hattersley Andrew T , Ellard Sian , Flanagan Sarah E , Houghton J A L , Hussain Khalid

Background: Neonatal diabetes (NDM) is a rare form of monogenic diabetes which usually presents before 6 months of age. Both transient and permanent NDM have been described.Objective: To report the molecular genetics and clinical characteristics of patients with NDM from a single centre in Sri Lanka.Method: Retrospective analysis of clinical and molecular genetic data from patients referred to Lady Ridgeway Hospital Endocrinology u...

hrp0084p2-523 | Puberty | ESPE2015

Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes

Correa Fernanda A , Franca Marcela M , Canton Ana P M , Otto Aline P , Costalonga Everlayny F , Brito Vinicius N , Carvalho Luciani R , Costa Silvia , Arnhold Ivo J P , Jorge Alexander A L , Rosenberg Carla , Mendonca Berenice B

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

hrp0084p2-530 | Puberty | ESPE2015

Nephrogenic Diabetes Insipidus with Partial Response to Ddavp Caused by a Novel AVPR2 Splice Site Mutation

Schernthaner-Reiter Marie Helene , Adams David , Nilsson Ola , Trivellin Giampaolo , Ramnitz Mary Scott , Raygada Margarita , Golas Gretchen , Faucz Fabio R. , Dileepan Kavitha , Lodish Maya B. , Lee Paul R. , Markello Thomas C. , Tifft Cynthia J. , Gahl William A. , Stratakis Constantine A.

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...