hrp0095p1-275 | Fat, Metabolism and Obesity | ESPE2022

Cardio-metabolic health in Danish children aged 7-10 years conceived after assisted reproductive technology

Laub Asserhøj Louise , Mizrak Ikram , Sophie Lebech Kjaer Anna , Dalsgaard Clausen Tine , Greisen Gorm , Main Katharina , Lav Madsen Per , Pinborg Anja , Beck Jensen Rikke

Background: Children conceived after assisted reproductive technology (ART) with frozen embryo transfer (FET) are more often born large-for-gestational age (LGA) while children born after fresh embryo transfer (fresh-ET) are at risk of being small-for-gestational age (SGA). LGA or SGA children are at increased risk of obesity, diabetes and cardiovascular disease later in life. The long-term cardio-metabolic health of children born after ART is scarcely explore...

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...

hrp0094p1-8 | Adrenal A | ESPE2021

Long-term Cardiometabolic Morbidity In Young Adults With Classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Righi Beatrice , Ali Salma R , Bryce Jillian , Tomlinson Jeremy W , Bonfig Walter , Baronio Federico , Costa Eduardo C , Filho Guilherme Guaragna , T’Sjoen Guy , Cools Martine , Markosyan Renata , Bachega Tania A S S , Miranda Mirela C , Iotova Violeta , Falhammar Henrik , Ceccato Filippo , Stancampiano Marianna R , Russo Gianni , Vukovic Rade , Giordano Roberta , Mazen Inas , Guven Ayla , Darendeliler Feyza , Poyrazoglu Cukran , Vries Liat de , Ellaithi Mona , Daniel Eleni , Johnston Colin , Hunter Steven J , Carroll Paul V , Adam Safwaan , Perry Colin G , Kearney Tara , Abraham Prakash , Rees D Aled , Leese Graham P , Reisch Nicole , Stikkelbroeck Nike M M L , Auchus Richard J , Ross Richard J , Ahmed S Faisal ,

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...

hrp0089fc3.2 | Diabetes and Insulin 1 | ESPE2018

Genome-Wide Meta-Analysis Identifies a Novel Low Frequency STK39 Variant of Large Effect on Risk of Type 1 Diabetes

Forgetta Vincenzo , Manousaki Despoina , Ross Stephanie , Tessier Marie-Catherine , Marchand Luc , Qu Hui-Qi , Bradfield Jonathan P , Grant Struan FA , Hakonarson Hakon , Paterson Andrew , Piccirillo Ciriaco , Polychronakos Constantin , Richards J Brent

Background: The genetic etiology of Type 1 Diabetes (T1D) is well recognized, with over 60 loci being identified to date, mainly through genome-wide association studies (GWAS). Most of these genetic associations involve common variants, while a sizable portion of the missing heritability of T1D could be attributed to unidentified rare single nucleotide polymorphisms (SNPs) (minor allele frequency (MAF) < 5%). The recent availability of large human whole genome sequencing d...

hrp0089fc15.3 | Growth and Syndromes | ESPE2018

Methylation of the C19MC microRNA Locus in the Placenta: A Mechanism whereby Maternal Body Size Links to that of the Child

Xargay-Torrent Silvia , Prats-Puig Anna , Mas-Pares Berta , Bassols Judit , Petry Clive J , Girardot Michael , de Zegher Francis , Ibanez Lourdes , Dunger David B , Feil Robert , Lopez-Bermejo Abel

Background: The C19MC locus microRNA gene cluster is imprinted in the placenta. Imprinted genes control prenatal development and placental functions, and are epigenetically regulated. The factors that affect the DNA methylation status of C19MC regulatory region are unknown, as is the impact of this differential methylation on the offspringÂ’s body size.Objectives: To study in humans 1) the association of placental C19MC DNA...

hrp0089rfc1.4 | Adrenals &amp; HPA Axis | ESPE2018

Mass Spectrometry-Based Assessment of Childhood Androgen Excess in 487 Consecutive Patients Over 5 Years

Idkowiak Jan , Elhassan Yasir S , Mannion Pascoe , Smith Karen , Webster Rachel , Saraff Vrinda , Barrett Timothy G , Shaw Nick J , Krone Nils , Dias Renuka P , Kershaw Melanie , Kirk Jeremy , Krone Ruth E , O'Reilly Michael W , Arlt Wiebke

Background: Androgen excess in childhood is a common clinical presentation and might signify serious pathology. We have recently explored patterns and severity of androgen excess in a large female adult cohort to differentiate common polycystic ovarian syndrome (PCOS) from non-PCOS pathology, including congenital adrenal hyperplasia (CAH), ovarian hyperthecosis and adrenal and ovarian tumours (Elhassan et al., JCE&M 2018). Herein, we undertake a similar approach f...

hrp0089rfc11.4 | Bone, Growth Plate &amp; Mineral Metabolism 2 | ESPE2018

A New Form of Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused By Abolished Store-Operated Ca2+ Entry

Cuk Mario , Lian Jayson , Kahlfuss Sascha , Kozhaya Lina , Vaeth Martin , Rieux-Laucat Frederic , Picard Capucine , Benson Melina J , Jakovcevic Antonia , Bilic Karmen , Martinac Iva , Stathopulos Peter , Kacskovics Imre , Vraetz Thomas , Speckmann Carsten , Ehl Stephan , Issekutz Thomas , Unutmaz Derya , Feske Stefan

Calcium signaling is fundamental to many cellular processes. An important pathway for increasing intracellular Ca2+ levels is store-operated Ca2+ entry (SOCE) regulated by stromal interaction molecule (STIM1-2), and Ca2+ channels formed by ORAI1-3 proteins. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. We present patients with Anhidrotic Ectodermal Dyspl...

hrp0089p3-p398 | GH &amp; 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 &amp; 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...