hrp0098fc7.1 | GH and IGFs | ESPE2024

Clinical characteristics and response to growth hormone treatment in 27 children and adolescents with pathogenic NPR2 variants

S. Renes Judith , M.J. Reedijk Ardine , M.C. Hendriks Yvonne , Bakker Boudewijn , M. Boot Annemieke , A. van Setten Petra , C.M. van der Kaay Daniëlle , C.S. Hokken-Koelega Anita , Losekoot Monique , A. van Duyvenvoorde Hermine , de Bruin Christiaan

Background: The NPR2 gene plays a critical role in the human growth plate. Pathogenic NPR2 variants can result in varying degrees of short stature. The majority of subjects have no specific clinical findings and are likely classified as idiopathic short stature.Objective: To describe the phenotypic spectrum, analyze genotype-phenotype correlations and assess the response and safety of growth hormone (GH...

hrp0098fc8.5 | Adrenals and HPA Axis 2 | ESPE2024

Free cortisol and free 21-deoxycortisol in the clinical evaluation of adrenal insufficiency in congenital adrenal hyperplasia

P.H. Adriaansen Bas , Utari Agustini , J. Olthaar Andre , C.B.M. van der Steen Rob , J. Pijnenburg-Kleizen Karijn , Berkenbosch Lizanne , N. Span Paul , C.G.J. Sweep Fred , L. Claahsen-van der Grinten Hedi , E. van Herwaarden Antonius

Background: Some patients with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) survive without glucocorticoid treatment, despite low total cortisol levels. This may be caused by accumulating precursor steroids such as 21-deoxycortisol (21DF), which could contribute to the glucocorticoid activity. In addition, these precursor steroids may decrease the cortisol-protein binding, thereby increasing the free (biologically activ...

hrp0092fc12.3 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Growth Hormone Treatment in Adults with Prader-Willi Syndrome has Sustained Positive Effects on Body Composition

Damen Layla , Donze Stephany , Kuppens Renske , Bakker Nienke , de Graaff Laura , Alfen-van der Velden Janiëlle van , Stikkelbroeck Nike , Hokken-Koelega Anita

Context: In children with Prader-Willi syndrome (PWS), the benefits of growth hormone (GH) treatment are well established. Currently, when young adults with PWS have attained adult height (AH), they have to stop GH treatment. Several one year studies have shown that GH treatment is also beneficial for adults with PWS, improving body composition. However, little is known about the longer-term effects.Objective: To investi...

hrp0092fc13.2 | Adrenals and HP Axis | ESPE2019

Sexual Dimorphism in Cortisol Production and Metabolism Throughout Pubertal Development: A Longitudinal Study

van Keulen Britt , Dolan Conor , van der Voorn Bibian , Andrew Ruth , Walker Brian , Boomsma Dorret , Hulshoff-Pol Hilleke , Rotteveel Joost , Finken Martijn

Background: Sex differences in disease susceptibility might be explained by a sexual dimorphism in hypothalamic-pituitary-adrenal axis activity, which has been postulated to emerge during puberty. The aim of this study is to assess the contribution of pubertal development to sexual dimorphism in cortisol production and metabolism.Methods: Participants, born between 1995 and 1996, were enrolled from the population-based N...

hrp0092p1-261 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Long-Term Urological and Psychosexual Outcome of Men Born with Hypospadias

Tack Lloyd , Van Hoecke Eline , Springer Alexander , Riedl Stefan , Tonnhofer Ursula , Weninger Julia , Hiess Manuela , Van Laecke Erik , Hoebeke Piet , Spinoit Anne-Françoise , Cools Martine

Introduction: According to EAU's guidelines, hypospadias (HS) repair is best performed between 6 and 18 months of age. Little is known about the long-term patient satisfaction or urological outcome following HS surgery.Aims: To examine the psychosexual and urological outcome of young adult men (16-21 years old) born with all forms of non-syndromic HS as compared to healthy controls, as well as patient and parental sa...

hrp0092p1-367 | GH and IGFs (2) | ESPE2019

Normal IGF-Bioactivity and Low Free IGF-I in Patients with Prader-Willi Syndrome with High Total Serum IGF-I: Immunoreactive IGF-I Concentration Poorly Reflects IGF Bio-Activity and Bio-Availability.

Elizabeth Melitza , Donze Stephany , Pellikaan Karlijn , van den Berg Sjoerd , van Doorn Jaap , Peeters Robin P. , Hokken-Koelega Anita C.S. , de Graaff Laura C.G.

Introduction: Recombinant Growth Hormone (GH) has changed the lives of many patients with Prader-Willi Syndrome (PWS). GH treatment has beneficial effects on body composition, physical performance, cognition, psychomotor development, respiratory function and quality of life of patients with PWS. Due to the narrow therapeutic range, GH treatment is subject to strict limits. Clinicians measure serum immunoreactive Insulin-like Growth Factor 1 ('total IGF-I&#...

hrp0092p1-377 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

International Consensus: Ovarian Tissue Cryopreservation in Young Turner Syndrome Patients. Outcomes of an Ethical Delphi Study Including 55 Experts from 16 Different Countries.

Schleedoorn Myra , Mulder Bjarne , Braat Didi , Beerendonk Catharina , Peek Ron , Nelen Willianne , van Leeuwen Evert , van der Velden Janielle , Fleischer Kathrin

Summary Answer: The majority of the expert panel states that ovarian tissue cryopreservation (OTC)should be offered to young females with Turner syndrome (TS)Background: OTC is a valid option to preserve the fertility of young females at risk of iatrogenic premature ovarian insufficiency (POI). Offering OTC to females with a genetic cause of POI seems a logical next step. One of the most common genetic disorders related ...

hrp0089fc5.4 | Thyroid | ESPE2018

Thyroid Hormone Analog Therapy in Patients with MCT8 deficiency: the Triac Trial

Groeneweg Stefan , de Coo Rene , van Beynum Ingrid , van der Knoop Marieke , Aarsen Femke , de Rijke Yolanda , Peeters Robin , Visser Theo , Visser Edward

Introduction: Mutations in the thyroid hormone (TH) transporter MCT8 result in MCT8 deficiency, which is characterized by severe intellectual and motor disability and high serum T3 concentrations inducing thyrotoxicity in peripheral tissues. At present, no effective treatment is available, although preclinical studies suggest that the T3 analog Triac is a promising candidate to i) normalize serum T3 levels and thus alleviate the thyrotoxicosis and ii) restore TH signaling in t...

hrp0089p1-p005 | Adrenals and HPA Axis P1 | ESPE2018

Elevated Concentrations of Adrenal Steroid Precursors with Glucocorticoid Activity Might Prevent Addisonian Crisis in Untreated Patients with Classic Congenital Adrenal Hyperplasia

Engels Manon , Pijnenburg-Kleizen Karijn , Utari Agustini , Faradz Sultana , Heuvel Joop , Herwaarden Teun van , Span Paul , Sweep Fred , Grinten Hedi Claahsen-van der

Introduction: Congenital adrenal hyperplasia (CAH) is most often caused by 21-hydroxylase deficiency (21OHD: 95%) or by 11-hydroxylase deficiency (11OHD). Classic CAH results in impaired cortisol production and consequently elevated ACTH concentrations leading to chronic adrenal stimulation with strongly elevated adrenal steroid precursors before the enzymatic defect. In contrast to other forms of adrenal insufficiency, some untreated classic CAH patients seem to have less cli...

hrp0086rfc1.6 | Adrenals | ESPE2016

Pediatric Patients with Congenital Adrenal Hyperplasia have Unfavorable Changes in their Cardiovascular Risk Profile

Mooij Christiaan F. , van Herwaarden Antonius E. , Roeleveld Nel , de Korte Chris L. , Kapusta Livia , Claahsen - van der Grinten Hedi L.

Background: Patients with congenital adrenal hyperplasia (CAH) are at risk of developing an unfavorable cardiovascular risk (CVR) profile. Data on the CVR profile in pediatric CAH patients are scarce.Objective and hypotheses: To evaluate the CVR profile of pediatric CAH patients.Method: A cross-sectional study in CAH patients (8–16 years) was performed (n=27). Blood was taken to evaluate several circulating CVR marker...