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...

hrp0095p1-516 | Growth and Syndromes | ESPE2022

Ovarian hilus cell hyperplasia: a rare cause of progressive virilization in a girl with Turner syndrome in the absence of Y chromosomal material

van der ZwanY.G. , Spath M.A. , van Setten P.A. , van der Velden J.

Introduction: Turner syndrome is a relatively common chromosomal abnormality affecting 1:2000 girls. Virilization can occur in girls with Turner syndrome which is in most cases associated with the presence of an Y chromosome. Mosaicism is found in 25% of the karyotypes, in 6% of those the Y chromosome is present. This could lead to development of androgen producing gonadoblastoma/dysgerminoma. Active screening to search for Y chromosomal material is included i...

hrp0092t18 | Top 20 Poster | ESPE2019

Early Treatment with Intravenous Bisphosphonates Prevents Severe Postnatal Bone Loss in Children with Osteogenesis Imperfecta

Rehberg Mirko , Heistermann Johanna , Schönau Eckhard , Semler Jörg , Hoyer-Kuhn Heike

Objective: Osteogenesis imperfecta is an inherited disorder characterised by bone fragility. Antiresorptive treatment with bisphosphonates is a well-established first line medical treatment in OI types III/IV. Nevertheless, there is no consensus on treatment modalities, like which bisphosphonate to use in which dose and when to initiate treatment. The objective of this work was to evaluate the therapeutic effect of a one-year treatment period with bisphosphona...

hrp0092p1-88 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Etiology of Severe Short Stature: Single Center Experience

Kärkinen Juho , Miettinen Päivi J , Raivio Taneli , Hero Matti

Background: Based on growth screening rules, severe short stature (i.e. height SDS less than -3), at the age of more than 3 years, warrants diagnostic evaluation in specialized health care. In the absence of apparent underlying cause, targeted and eventually untargeted genetic studies have been proposed. However, the etiology of short stature at the severe end of the spectrum is poorly characterized.Methods: We ...

hrp0092p1-395 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Presentation and Diagnosis of Childhood Onset Combined Pituitary Hormone Deficiency: A Single Center Experience from Over 30 Years.

Hietamäki Johanna , Miettinen Päivi J. , Hero Matti , Tarkkanen Annika , Raivio Taneli

Background: We describe the incidence, etiologies and clinical features of combined pituitary hormone deficiency (CPHD) in pediatric patients from a single tertiary center.Methods: The cohort comprised of patients with CPHD, treated in the Helsinki University Hospital between 1985 and 2018. They were identified through an ICD-9/ICD-10 code search, and the clinical data were recorded from the patient charts.<p class="...

hrp0092p3-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Extreme Hypercalcaemia: Watch for Glycogen Storage Disease Type 1a with Hyperinsulinism

christesen henrik , Nielsen Rasmus G , Lund Allan M , Cananguez Arlen A , Schou Anders J

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...