hrp0082p3-d1-883 | Perinatal and Neonatal Endocrinology | ESPE2014

Iodine Status in Pregnant, Lactating Mothers and their Infants and Effects of Iodine Supplementation

Zelinskaya Natalya , Mamenko Marina , Belykh Natalya

Background: Iodine deficiency has multiple adverse effects in humans, termed iodine deficiency disorders, due to inadequate thyroid hormone production. Iodine deficiency during pregnancy and infancy may impair growth and neurodevelopment of the off-spring and increase infant mortality.Objectives: To evaluate effects of iodine supplementation in pregnant, lactating women and their infants at the East of Ukraine.Methods: Target group...

hrp0092fc15.1 | Late Breaking Abstracts | ESPE2019

DLG2 Mutations in Patients with Delayed or Absent Puberty

Jee Youn Hee , Won Sehoon , Lui Julian C. , Jennings Melissa , Whalen Philip , Yue Shanna , Cheetham Tim , Boden Matthew G. , Radovick Sally , Quinton Richard , Leschek Ellen W. , Aguilera Greti , Yanovski Jack A. , Seminara Stephanie B. , Roche Katherine W. , Crowley William F. , Delaney Angela , Baron Jeffrey

NMDA (N-Methyl-D-aspartic acid) receptors have been shown to control the timing of sexual maturation in laboratory animals. Therefore, variants in genes impacting NMDA receptor signaling might be predicted to affect human puberty. We studied an extended family with extremely delayed puberty (menarche at 16.5 - 18 years for female family members and pubertal onset at 16 years for male family members). Exome sequencing revealed a rare missense variant (F900V) in DLG2, w...

hrp0092p1-103 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Case of Panhipopituitarism with SOX3 Gene Deletion

Cinaz Peyami , Kayhan Gülsüm , Döğer Esra , Uğurlu Aylin Kılınç , Akbaş Emine Demet , Küpçü Zekiye , Perçin Ferda , Bideci Aysun , Çamurdan Orhun

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...

hrp0092p1-145 | Thyroid | ESPE2019

The Investigation of Genetic Etiology in Familial Cases with Congenital Hypothyroidism

Kardelen Al Asli Derya , Isik Fatma Büsra , Özturan Esin Karakiliç , Sözügüzel Mavi Deniz , Öztürk Ayse Pinar , Poyrazoglu Sükran , Parlayan Cüneyd , Cangül Hakan , Bas Firdevs , Darendeliler Feyza

Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this study was to determine the genetic and etiological factors of CH.Methods: 49 patients(female;n=24), from 24 families were included in the study. The data, collected retrospectively, consisted ...

hrp0092p2-137 | Fat, Metabolism and Obesity | ESPE2019

Clinical Characteristics and Response to Growth Hormone Treatment in Patients with Prader-Willi Syndrome

Evliyaoglu Olcay , Dagdeviren Cakir Aydilek , Bas Firdevs , Akin Onur , Siklar Zeynep , Özcabi Bahar , Berberoglu Merih , Kardelen Asli Derya , Bayramoglu Elvan , Poyrazoglu Sükran , Aydin Murat , Ergül Türel Ayça , Göksen Damla , Bolu Semih , Aycan Zehra , Tüysüz Beyhan , Ercan Oya

Introduction and aim: Prader-Willi syndrome(PWS), is a genetic disorder caused by the absence of paternal genes located on chromosome 15q11.2-q13. In this multi-central study; patients with PWS were followed for 2 years. Initial clinical and laboratory findings, growth hormone(GH) treatments and their responses were evaluated.Patients and Methods: 54 patients from 10 pediatric endocrine centers were involved and data was...

hrp0089fc14.1 | Multisystem Endocrine Disorders | ESPE2018

Awareness and Participation in Rare Disease Registries Within the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

Ali Salma R , Bryce Jillian , Cools Martine , Korbonits Marta , Beun Johan G , Taruscio Domenica , Beuschlein Felix , Danne Thomas , Dattani Mehul , Dekkers Olaf , Linglart Agnes , Netchine Irene , Nordenstrom Anna , Patocs Attila , Persani Luca , Smyth Arlene , Sumnik Zdenek , Visser W Edward , Hiort Olaf , Pereira Alberto M , Ahmed S Faisal

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.<p cl...

hrp0089p1-p026 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

Duration of Breastfeeding and Bone Mineral Density in Childhood – A Prospective Study Among Preschool Children

Tint Mya Thway , Pang Wei Wei , Vasanwala Rashida Farhad , Padmapriya Natarajan , Ng Sharon , Soh Shu E , Chong Mary Fong-Fong , Shek Lynette Pei Chi , Gluckman Peter D , Chong Yap-Seng , Godfrey Keith M , Fortier Marielle V , Eriksson Johan G , Lee Yung Seng , Zhang Cuilin , Yap Fabian

Background: Bone growth and mineralization during childhood are now recognized as important for bone health in adulthood, leading to renewed interest in identifying modifiable factors that impact bone mineral density (BMD) in childhood. Emerging data suggest that duration of breastfeeding may affect BMD in later childhood and adult life. However, such data are sparse and inconsistent.Objectives: This study examined the relationship betwe...

hrp0089p2-p153 | Fat, Metabolism and Obesity P2 | ESPE2018

Early BMI Trajectory Classes are Linked to Distinct Body Fat Partitioning Later in Childhood

Michael Navin , Ying Ong Yi , Sadananthan Suresh Anand , Aris Izzuddin M , Tint Mya Thway , Lun Wen Yuan , Wei Pang Wei , Ling Loy See , Soh Shu-E , Shek Lynette Pei-Chi , Yap Fabian Kok Peng , Tan Kok Hian , Godfrey Keith M , Gluckman Peter D , Chong Yap Seng , Karnani Neerja , Kramer Michael S , Eriksson Johan G , Fortier Marielle V , Velan S Sendhil , Lee Yung Seng

Background: Growth patterns in infancy and early childhood have been linked to risks of obesity and cardiometabolic disorders in adulthood. Body fat partitioning, particularly increased fat accumulation at ectopic sites, has been strongly associated with cardiometabolic disorders. However, the lack of precise body composition measures in prior longitudinal birth-cohort studies has made it difficult to ascertain if early growth patterns could result in consolidation of distinct...

hrp0084lbp-1256 | Late Breaking Posters | ESPE2015

Higher Expression of the Oncogene YAP1, a Wnt/β-Catenin Target, is associated with Poor Outcome in Pediatric Patients with Adrenocortical Tumors

Abduch Rafael H , Bueno Ana Carolina , Leal Leticia F , Cavalcanti Marcelo M , Brandalise Silvia R , Masterallo Maria J , Yunes Jose A , Martinelli Jr Carlos E , Scrideli Carlos A , Tone Luiz G , Tucci Silvio , Moreira Ayrton C , Ramalho Leandra Z , Castro Margaret , Antonini Sonir R

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

hrp0094fc8.2 | Neuroendocrinology | ESPE2021

Recessive PRDM13 mutations result in hypogonadotropic hypogonadism and cerebellar hypoplasia

Gregory Louise C. , Whittaker Danielle E , Oleari Roberto , Quesne-Stabej Polona Le , Williams Hywel J. , UCL GOSgene , Torpiano John G , Formosa Nancy , Cachia Mario J. , Field Daniel , Lettieri Antonella , Ocaka Louise , De Martini Lisa Benedetta , Rajabali Sakina , Riegman Kimberley L. , Paganoni Alyssa J.J. , Chaya Taro , Robinson Iain C.A.F. , Furukawa Takahisa , Cariboni Anna , Basson M. Albert , Dattani Mehul T. ,

Three patients from two unrelated families in Malta; one consanguineous (siblings: Patient 1, male and Patient 2, female) and one non-consanguineous (Patient 3, male), manifested hypogonadotropic hypogonadism with delayed puberty, intellectual disability, scoliosis, and ataxia with cerebellar hypoplasia on MRI. GnRH tests revealed low peak LH and FSH concentrations in the patients: Patient 1; LH 2.3 IU/L, FSH 4.4 IU/L (14.3y), Patient 2; LH 3.6 IU/L, FSH 6.4 IU/L (12.5y), Pati...