hrp0084p2-310 | DSD | ESPE2015

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Maris Ellen , Looijenga L H J , Cools Martine

Background: Individuals with androgen insensitivity syndrome (AIS) have an increased risk for developing a germ cell cancer (GCC). The risk is low during childhood; therefore, gonads are commonly preserved until after puberty. Little is known about GCC development in AIS during adulthood. This question is particularly relevant as many adult AIS women decline gonadectomy.Objective and hypotheses: To gain insight in attitudes towards gonadectomy in various...

hrp0097p1-483 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Incidence of Perinatal Stress Hyperinsulinism Requiring Diazoxide Treatment in Newborn Infants

Rafferty Deborah , Truong Lisa , Nedrelow J , Thornton Paul

Background: The incidence of perinatal stress hyperinsulinism (PSHI) requiring diazoxide treatment is estimated to be 1:12,000 (Hoe et al., 2006). Diazoxide is used to treat PSHI, but it has been shown to have adverse effects including pulmonary hypertension. Gray et al, reported that of 1.25 million infants admitted to NICUs for hypoglycemia over a period of 18 years, only 1066 received diazoxide suggesting 1:1172 babies had HI however 92% o...

hrp0098rfc4.5 | Adrenals and HPA Axis 1 | ESPE2024

Ontogenesis of the urinary steroid metabolome in infancy assessed by gas chromatography/mass spectrometry (GC-MS)

Rakicioglu H , Pons-Kuehnemann J , Hartmann M , A. Wudy S

Introduction: The steroid metabolism of the newborn and infant is subject to rapid changes and is extremely difficult and complex to assess. Of all analytical techniques, the platform technology of GC-MS allows the most comprehensive assessment of the entire steroid metabolome and this approach is also non-invasive.Method: In order to characterize the essential changes in steroid metabolism during infancy, a total of 355...

hrp0094yi1.1 | Young Investigators | ESPE2021

Identification of novel genetic causes of familial central precocious puberty

Avbelj Stefanija Magdalena , Kovač Jernej , Gat-Yablonski Galia , Novak Eva , Hovnik Tinka , Toromanović Alma , Stipančič Gordana , Milenković Tatjana , Vuković Rade , Todorović Slađana , Jančevska Aleksandra , Zdravković Vera , Jesič Maja , Stanković Sandra , Phillip Moshe , Battelino Tadej , de Vries Liat

Introduction: The major genetic cause of CPP is the paternally inherited Makorin RING-finger protein 3 (MKRN3) deficiency. Rare patients carry variants in kisspeptin and its receptor and DLK1.Objectives: To identify genetic causes of CPP.Population and methods: MKRN3 Sanger sequencing was performed in 56 unrelated subjects (12 familial non-maternal, 44 sporadic (6 boys)), whole-ge...

hrp0098fc6.5 | Fat, Metabolism and Obesity 1 | ESPE2024

First cross sectional analysis of the eclip registry

von Schnurbein Julia , Nagel Gabriele , Akinci Baris , Broekma Marjoleine , Csajbok Eva , Rosaria D'Apice Maria , Gambineri Alessandra , Heldt Kathrin , Kleinendorst Lotte , Lattanzi Giovanna , Miehle Konstanze , Prodami Flavia , Santini Ferruccio , Santos Silva Ermelinda , B Savage David , Scherer Thomas , Sbraccia Paolo , Sorkina Ekaterina , Štotl Iztok , Vantyghem Marie-Christine , Vigouroux Corinne , Vorona Elena , Araújo-Vilar David , Wabitsch Martin , Vatier Camille , Ceccarini Giovanni

Background: Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy sub-form, research in this area requires international co-operation. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients affected by lipodystrophy....

hrp0084p2-406 | GH & IGF | ESPE2015

Metabolic Health in Short Children Born Small for Gestational Age Treated with GH and GnRHa: Results of a Randomised, Dose-response Trial

van der Steen M , Lem A J , van der Kaay D C M , Waarde W M Bakker-van , van der Hulst F J P C M , Neijens F S , Noordam C , Odink R J , Oostdijk W , Schroor E J , Sulkers E J , Westerlaken C , Hokken-Koelega A C S

Background: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...

hrp0092p1-267 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Endocrine Profiling and Association with Ultrasound Measured Testicular Volume and Biometrics in a Cohort of Norwegian Boys

Madsen André , Oehme Ninnie , Bruserud Ingvild , Roelants Mathieu , Sagen Jørn , Mellgren Gunnar , Júlíusson Pétur

Introduction: Male puberty is initiated by endocrine signaling in the hypothalamic-pituitary axis whereby follicle-stimulating hormone (FSH) and luteinizing hormone (LH) enable testicular maturation and synthesis of testosterone. Recent publications have eluded to overnutrition and obesity as relevant factors that may accelerate the timing of puberty. Attainment of testicular volume (TV) 4 ml measured by Prader orchidometer remains the definition of male puber...

hrp0089p2-p139 | Fat, Metabolism and Obesity P2 | ESPE2018

The Associations Between Neck – and Upper Arm Circumference with Cardiometabolic Risk Over Traditional Risk Factors in Adolescents - Data from Five EUROPEAN Countries (PreSTART-Study)

Weihrauch-Bluher Susann , Petroff David , Brady Emer M. , Gray Laura J. , Ribeiro Rogerio T. , Vergara Mitxeltorena I. , Gerasimidi-Vazeou Diana A. , Davies Melanie J.

Background: Prevalence and severity of obesity and associated comorbidities are increasing in adolescents. Data on neck and upper arm (UA) circumference in addition to established anthropometric measures to define cardiometabolic risk are limited to date.Methods: Data from Phase I of the EU-funded PreSTART-study (trial registration number NCT02545140) was applied. Demographic, clinical, biochemical and lifestyle data were collected in adolescent...

hrp0086p1-p335 | Gonads & DSD P1 | ESPE2016

Complete Androgen Insensitivity Syndrome Caused by a Deep Intronic Pseudoexon-Activating Mutation in the Androgen Receptor Gene

Kansakoski Johanna , Jaaskelainen Jarmo , Jaaskelainen Tiina , Tommiska Johanna , Saarinen Lilli , Lehtonen Rainer , Hautaniemi Sampsa , Frilander Mikko J. , Palvimo Jorma J. , Toppari Jorma , Raivio Taneli

Background: Androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and to mild (MAIS) forms of androgen resistance, is caused by mutations in the X-linked AR gene that encodes the androgen receptor. Some cases, however, remain without a molecular genetic diagnosis that would confirm the diagnosis especially in cases that have phenotypic similarities with other 46,XY disorders of sex development.Objective and hypoth...

hrp0084fc4.3 | Growth | ESPE2015

An Updated and Final Analysis of a Randomised Placebo-controlled Trial of the Effect of Oxandrolone and Timing of Pubertal Induction on Final Height in Turner Syndrome

Gault Emma-Jane , Cole Tim J , Perry Rebecca J , Casey Sarah , Paterson Wendy F , Hindmarsh Peter C , Betts Peter , Dunger David B , Donaldson Malcolm D C

Background: While GH therapy forms the mainstay of growth promoting treatment for Turner syndrome (TS), adjunctive use of oxandrolone and optimal timing of pubertal induction remain controversial. The previously published interim analysis of this randomised double-blind placebo-controlled trial demonstrated that oxandrolone and pubertal induction at 14y vs 12y significantly increased final height. However, these effects were not additive.Objective: To up...