hrp0095p1-9 | Adrenals and HPA Axis | ESPE2022

Identification of a novel CYP11B2 variant in a family with varying degrees of aldosterone synthase deficiency

Garrelfs Mark , Rinne Tuula , Hillebrand Jacquelien , Lauffer Peter , Bijlsma Merijn , Claahsen-van der Grinten Hedi , de Leeuw Nicole , Finken Martijn , Rotteveel Joost , Zwaveling-Soonawala Nitash , Nieuwdorp Max , van Trotsenburg Paul , Mooij Christiaan

Background: Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2. To date, more than forty different pathogenic variants in the CYP11B2 gene causing isolated aldosterone synthase deficiency have been identified. We report on a novel pathogenic CYP11B2 variant.Case report: The second child (male) of consanguineous, healthy parents, presented shortly after...

hrp0095p1-213 | Adrenals and HPA Axis | ESPE2022

Alterations in glucocorticoid metabolism as a possible cause of hypertension in childhood obesity

Martijn JJ Finken , JG Wirix Aleid , A von Rosenstiel-Jadoul Ines , van der Voorn Bibian , JM Chinapaw Mai , F Hartmann Michaela , E Kist-van Holthe Joana , A Wudy Stefan , Rotteveel Joost

Introduction: Childhood obesity is associated with alterations in hypothalamus-pituitary-adrenal axis activity. We tested the hypothesis that multiple alterations in the metabolism of glucocorticoids are required for the development of hypertension in children who become overweight.Methods: Timed spot urine for targeted gas chromatography-mass spectrometry steroid metabolome analysis was collected from (1) overweight/hyp...

hrp0095lb20 | Late Breaking | ESPE2022

A Structured Education Program on Hormonal Control and Quality of Life in Congenital Adrenal Hyperplasia: a study in Indonesia

Utari Agustini , Ediati Annastasia , Zulfa Juniarto Achmad , Dewi Ariani Mahayu , Mostert Saskia , Neni Sitaresmi Mei , E Van Herwaarden Antonius , LS Drop Stenvert , L Claahsen-van der Grinten Hedi , MH Faradz Sultana

Background: Classic Congenital Adrenal Hyperplasia (CAH) needs life-long treatment of glucocorticoids. Compliance with long-term medication is still challenging, particularly in developing countries. However, there has been no prospective study about the strategy to improve compliance in CAH and its relationship with hormonal control and quality of life (QoL) in CAH, especially in underprivileged countries such as Indonesia. This study aimed to determine the r...

hrp0094p1-114 | Fat, Metabolism and Obesity B | ESPE2021

EuRRECa Registry Genetic Obesity Survey Results

Shaikh Guftar , Akker Erica van den , Bryce Jillian , Ali Salma , Amin Rakesh , Cools Martine , Dattani Mehul , Grugni Graziano , Khairi Ranna El , Persani Luca , Peters Catherine , Rossum Elisabeth van , Waele Kathleen De , Gan Hoong-Wei , Ahmed Faisal ,

Introduction: The diagnosis and treatment of patients with rare diseases is often difficult as most clinicians do not encounter them. Therefore, centralization and collaboration between centers of expertise is necessary. European Reference Networks (ERN’s) such as RareEndoERN provide a platform for this, with one of its main thematic groups having a specific focus on rare growth and obesity disorders. Genetic obesity encompasses a heterogeneous group of c...

hrp0097s12.2 | What's new for the HPG Axis | ESPE2023

SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability

Cariboni Anna , Oleari Roberto , Lettieri Antonella , van den Munkhof Marleen , van Battum Eljo , Tacconi Carlotta , Spreafico Marco , Paganoni Alyssa , Amoruso Federica , Eberini Ivano , Dunkel Leonard , Fantin Alessandro , Howard Sasha , Pasterkamp Jeroen

Innervation of the hypothalamic median eminence by Gonadotropin-Releasing Hormone (GnRH) neurons is vital to ensure puberty onset and successful reproduction. However, the molecular and cellular mechanisms underlying median eminence development and pubertal timing are incompletely understood. Here we show that Semaphorin-6A is strongly expressed by median eminence-resident oligodendrocytes positioned adjacent to GnRH neuron projections and fenestrated capillaries, and that Sem...

hrp0097p1-400 | Adrenals and HPA Axis | ESPE2023

11-oxygenated androgens as biomarkers in congenital adrenal hyperplasia: reference intervals for children

P.H. Adriaansen Bas , oude-Alink Sandra , W. Swinkels Dorine , A.M. Schröder Mariska , N. Span Paul , C.G.J. Sweep Fred , L. Claahsen - van der Grinten Hedi , E. van Herwaarden Antonius

Background: Patients with congenital adrenal hyperplasia (CAH) might suffer from hyperandrogenism. For diagnosing and treatment monitoring, usually levels of androstenedione (A4) and testosterone (T) are measured in blood. More recently, adrenal-specific 11-oxygenated androgens such as 11- hydroxyandrostenedione (11OHA4), 11-ketoandrostenedione (11KA4), 11-hydroxytestosterone (11OHT), and 11-ketotestosterone (11KT) were introduced as promising biomarkers, but ...

hrp0095p1-115 | Growth and Syndromes | ESPE2022

Validation of referral criteria for growth monitoring in Flanders based on height at the start of GH therapy in children with growth hormone deficiency and Turner syndrome

Klink Daniel , Logghe Karl , Thomas Muriel , Roelants Mathieu , Van Hoeck Katelijne , Lysy Philippe , Becker Marianne , Staels Willem , de Schepper Jean

Background/Aims: Length and weight of all children in Flanders are monitored every three years at school from the age of 3 years. The current criteria used for referral to specialized care are: height SDS < -2.5, height SDS between -2 and -2.5 SDS with a height SDS adjusted for parental height < -1.64, or a decrease in height SDS of more than 1 SDS in the past 3 years. The aim of this study is to investigate the sensitivity of the Flemish referral criter...

hrp0095p1-120 | Growth and Syndromes | ESPE2022

Mosaic sex chromosomal abnormalities in male individuals with short stature: a new role for non-conventional techniques (whole exome sequencing, genome wide array analysis, SHOX MLPA) in making the genetic diagnosis

Westra D. , Rinne T.K. , Oud M.S. , Ruiterkamp-Versteeg M.H.A. , de Leeuw N. , van der Velden A.A.E.M. , Kempers M.J.E.

The phenotype in male individuals with a mosaic sex chromosomal abnormality is heterogenous, but ambiguous genitalia, delayed puberty, disturbed spermatogenesis, and short stature are frequently seen. Genetic investigation in boys with idiopathic/isolated short stature usually includes SHOX gene analysis (sequencing and copy number detection by MLPA), genome wide array analysis, and/or whole exome sequencing (WES). In the Netherlands, conventional karyotyping is not part of th...

hrp0095p2-76 | Diabetes and Insulin | ESPE2022

Fibroblast growth factor 23 in relation to calcium-phosphate metabolism and cardiovascular risk factors in patients with type 1 diabetes.

Vermeulen Stephanie , E.A. Scheffer-Rath Mirjam , T.P. Besouw Martine , van der Vaart Amarens , H. de Borst Martin , M. Boot Annemieke

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...

hrp0092fc8.3 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Absence of Central Adrenal Insufficiency in Adults with Prader-Willi Syndrome

Rosenberg Anna , Davidse Kirsten , Pellikaan Karlijn , Donze Stephany , Hokken-Koelega Anita , van der Lely Aart Jan , de Graaff Laura

Introduction: Individuals with Prader-Willi syndrome (PWS) suffer from hyperphagia, hypotonia and hypothalamic dysfunction, leading to a variety of pituitary hormone deficiencies. Central adrenal insufficiency (CAI) has been reported in PWS, while each of these studies used different testing modalities and cut-off values. Therefore, reported prevalence of CAI ranges from 0% to 60%. It has been speculated that CAI might be responsible, at least in part,...