hrp0098p3-176 | Growth and Syndromes | ESPE2024

Evaluation of an infant formula with large, milk phospholipid-coated lipid droplets on long-term growth and adiposity: the saturn study design

Dorrepaal Demi , van Beijsterveldt Inge , Abrahamse-Berkeveld Marieke , Hokken Anita

Background and aims: Breastfeeding is associated with different adiposity development in infants and a reduced overweight risk. Human milk contains large lipid globules with a native membrane rich in phospholipids, whereas lipid droplets in most conventional infant formulas (IF) are small and protein-coated. Our study aims to evaluate the impact of a Concept IF with large, milk phospholipid-coated lipid droplets, closer to human milk lipid globule characterist...

hrp0086p1-p805 | Syndromes: Mechanisms and Management P1 | ESPE2016

Percutaneous Epiphysiodesis Around the Knee Effectively Reduced Predicted Excessive Final Height. Preliminary Results on Final Height, Complications and Satisfaction in a Large Cohort of Dutch Boys and Girls

Goedegebuure Wesley , van der Steen Marieke , Jonkers Frank , Bakker-van Waarde Willy , Odink Roelof

Background: Percutaneous epiphysiodesis (PE) around the knee is the treatment of choice in the Netherlands to reduce predicted excessive final height. Studies until now are limited, had small numbers of patients and short follow-up periods.Objective and hypotheses: This nationwide Dutch long-term retrospective follow-up study aimed to assess final height (FH), complications and satisfaction after PE. Primary hypothesis was: ‘The PE around the knee i...

hrp0084p2-300 | Diabetes | ESPE2015

Non-Immune Diabetes Mellitus and Neurodegeneration: Two Distinct Cases of Wolfram Syndrome

Lemay Annelies , Sinnema Margje , den Brinker Marieke , Dotremont Hilde , France Annick , Rooman Raoul , Straetemans Saartje

Background: Wolfram syndrome features diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness (DIDMOAD). Especially the neurological degeneration usually leads to a very poor prognosis. We present two cases of Wolfram syndrome, an autosomal dominant and an autosomal recessive type, caused by heterozygous mutations in the WFS1 gene.Case report: Case 1: a 13-year-old girl with a history of progressive sensorineuronal hearing loss ...

hrp0084p3-672 | Bone | ESPE2015

Pseudohypoparathyroidism: Clinical Heterogeneity Illustrated by Three Different Cases

Lemay Annelies , den Brinker Marieke , Dotremont Hilde , Ceulemans Berten , France Annick

Background: Pseudohypoparathyroidism represents a group of clinical and molecular heterogeneous disorders, characterized by functional hypoparathyroidism, caused by end-organ resistance to the action of PTH. Pseudohypoparathyroidism manifests as hypocalcemia, hyperphosphatemia and elevated plasma levels of PTH. A combination of features, also known as Albright osteodystrophy including disproportionate short stature, obesity, dysmorphia, may co-exist.Case...

hrp0094p1-166 | Growth B | ESPE2021

The BoneXpert adult height prediction method outperforms the Bayley and Pinneau method in tall male adolescents.

De Schepper Jean , Guisez Tanguy , Wijnand Justine , Cools Martine , Herregods Nele , Marieke den Brinker , Gielen Jan , Ernst Caroline , Gies Inge ,

Background and Aim: Adult height predictions by the manual Bayley and Pinneau (BP) method in tall boys have shown large confidence intervals up to a bone age of 15 years. The adult height (AH) BoneXpert prediction method, which is based on an automated bone age reading, has not been evaluated in tall adolescents. We therefore compared the bias between the manual BP method and the BoneXpert (BE) method in tall male Flemish adolescents.Pat...

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...

hrp0095p1-137 | Multisystem Endocrine Disorders | ESPE2022

First description of a child with a biallellic loss-of-function variant in the sulfate transporter SLC13A1

JJ Finken Martijn , Bokenkamp Arend , EC Smith Desiree , MC Wamelink Mirjam , EW Jansen Erwin , A Struijs Eduard , Waisfisz Quinten , Verkleij Marieke , F Hartmann Michaela , Wang Rong , A Wudy Stefan , Paganini Chiara , Rossi Antonio , M van de Kamp Jiddeke

Introduction: Sulfation is required for the metabolism of numerous compounds, including proteoglycans, steroid hormones, neurotransmitters, toxic chemicals, and drugs like acetaminophen. The sulfate transporter SLC13A1 is responsible for the intestinal absorption and the renal reabsorption of inorganic sulfate, but loss-of-function mutations in this gene have never been described in man. Here, we describe a male with a biallelic loss-of-function variant, i.e.,...

hrp0095rfc10.2 | GH and IGFs | ESPE2022

Severe primary IGF1 deficiency diagnosed by a standardized IGF1/ IGFBP3 generation test : the Belgian experience

Ryckx Sofie , Derycke Christine , Anckaert Ellen , Beauloye Véronique , Beckers Dominique , Brachet Cécile , Den Brinker Marieke , De Waele Kathleen , Dotremont Hilde , Boros Emese , Klink Daniel , Lebrethon Marie-Christine , Lysy Philippe , Mouraux Thierry , Parent Anne-Simone , Rochtus Ann , van der Straaten Saskia , De Schepper Jean

Background/ Aim: Over the past 6 years, the IGF1/ IGFBP3 generation test (IGFGT) has been used in Belgium in a standardized form to identify children with severe primary IGF1 deficiency (SPIGFD). In this study, the discordance of the IGF1 and IGFBP3 responses during an IGFGT and the prevalence of SPIGFD were analyzed in a cohort of children with short stature (height SDS < - 2) and presenting with low (below lower reference limit) serum IGF1 level and norma...

hrp0097p1-169 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

RXFP2: validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility

Syryn Hannes , Verdin Hannah , Van de Velde Julie , Peelman Frank , Becker Marianne , Brachet Cécile , den Brinker Marieke , Depoorter Sylvia , Fudvoye Julie , Klink Daniel , Lysy Philippe , Massa Guy , Reynaert Nele , Rochtus Anne , Staels Willem , Van Loocke Marlies , Sinclair Andrew , Ayers Katie , Bathgate Ross , Cools Martine , De Baere Elfride

Background/Aims: Cryptorchidism or undescended testis is a prevalent congenital urogenital condition affecting male newborns with an incidence rate ranging from 1.0 to 4.6%. Mouse models have implicated INSL3 and its receptor RXFP2 (formerly known as GREAT or LGR8) in the development of the condition. RXFP2 acts as a G protein-coupled receptor that triggers the generation of cAMP by binding INSL3. But despite the established role in testicular descent, so far ...

hrp0097rfc7.4 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Serum steroid metabolome dynamics during infancy: a prospective, longitudinal cohort of healthy boys

Siegfried Busch Alexander , Lindhardt Ljubicic Mariee , N. Upners Emmie , B. Fischer Margit , P. Hagen Casper , Frederiksen Hanne , Juul Anders

Background: The circulating steroid metabolome in boys undergoes significant changes during infancy reflecting functional and structural rearrangements of the adrenal glands as well as the transient activity of the hypothalamic–pituitary–gonadal axis, also called minipuberty. Studies investigating the serum steroid metabolome dynamics during infancy in a longitudinal manner are however sparse.Objective: We ai...