hrp0084p3-1060 | Hypo | ESPE2015

Transient Congenital Hyperinsulinism and Renal Fanconi Syndrome

Brichta Corinna Melanie , Pohl Martin , Lausch Ekkehart , Kohlhase Jurgen , van der Werf-Grohmann Natascha , Wurm Michael , Krause Alexandra , Schwab Karl Otfried

Background: Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in early infancy. Mutations in the HNF4A gene lead to transient hyperinsulinism in early infancy and maturity-onset diabetes of youth (MODY1), later in life. Fanconi syndrome is a generalised dysfunction of the renal proximal tubule with a loss of glucose, amino acids, phosphate, low molecular weight proteins, bicarbonate and urate, causing growth failure and rickets in childho...

hrp0094p1-3 | Adrenal A | ESPE2021

Growth-Related Characteristics of Patients <18 Years of Age with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (21OHD): Real-World Evidence from the I-CAH Registry

Farrar Mallory , He Wei , Ali Salma R , Bryce Jillian , Lawrence Neil , Baronio Federico , Claahsen-van der Grinten Hedi L. , Bonfig Walter , Krone Nils , Yonan Chuck , Ahmed S. Faisal ,

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and elevated ACTH secretion, resulting in excess androgen production. This exposure to excess androgens contributes to advanced skeletal maturation and reduced growth in puberty. Data from the I-CAH registry were analyzed to identify growth-related characteristics of children and adolescents with...

hrp0098p1-93 | Sex Endocrinology and Gonads 1 | ESPE2024

EuRRECa Core Registry: results from the Gender Incongruence module

Ciancia Silvia , Klink Daniel , Hannema Sabine , Claahsen-van der Grinten Hedi , Cherenko Mariya , Luisa Priego Zurita Ana , Faisal Ahmed Syed , Cools Martine

Background: Access to transgender healthcare for adolescents varies largely across Europe (and beyond), depending on the regulations and healthcare system of the country where they live. In some countries, obtaining transgender healthcare can be almost impossible. Specifically, the age at which puberty suppression (PS) and subsequent gender-affirming hormones (GAH) are offered can vary widely. Medical treatment for adolescents with gender incongruence (GI) is ...

hrp0098p2-16 | Adrenals and HPA Axis | ESPE2024

The challenge of diagnosis and management of micronodular adrenocortical disease in a 7-year old girl with cyclic cushing syndrome: a case report

Alice Manzardo Olimpia , Ritter Marie , Muehlschlegel Geeske , Hodde Franka , Van der Werf Natascha , Lichte Kai , F Hartmann Michaela , A Wudy Stefan , Kamrath Clemens

Background: We present the case of a 7-year old girl presenting with undulant ACTH independent Cushing syndrome (CS).Case presentation: The patient presented at a secondary care centre with hyperphagia, fatigue and 8 kg weight increase 4 weeks after an upper airway infection. The parents described a similar episode with spontaneous regression 12 months before. At physical examination she showed a cushingoid habitus with ...

hrp0095p1-5 | Adrenals and HPA Axis | ESPE2022

Urinary steroid metabolite ratios: sex- and age-dependent changes and use for the differential diagnosis of inborn steroidogenesis disorders

S. Baranowski Elizabeth , Guran Tulay , C. Gilligan Lorna , Shaheen Fozia , Utari Agustini , M.H. Faradz Sultana , E. Van Herwaarden Antonius , L. Claahsen - van der Grinten Hedi , E. Taylor Angela , H.L. Shackleton Cedric , Arlt Wiebke

Background: Biochemical ratios of precursor-to-product urinary steroid metabolites have been proposed as surrogate markers of steroidogenic enzyme activity to aid the differential diagnosis of inborn disorders of steroidogenesis. Using ratios rather than total amounts facilitates analysis of single spot urine samples, more convenient than 24-h urine collections for young children. Previous studies examining the utility of these biochemical ratios have been lim...

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...

hrp0092p1-157 | Adrenals and HPA Axis (1) | ESPE2019

Influence of Salt Supplementation on Drug Therapy in Children with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency Aged 0-3 Years: Update on a Retrospective Multicentre Analysis Using the I-CAH Registry

Neumann Uta , van der Linde Annelieke , Krone Ruth , Guven Ayla , Güran Tülay , Elsedfy Heba , Darendeliler Feyza , Bachega Tania , Balsamo Antonio , Hannema Sabine , Birkebaek Niels , Vieites Ana , Acerini Carlo , Cools Martine , Milenkovic Tatjana , Bonfig Walter , Costa Eduardo , Atapattu Navoda , de Vries Liat , Filho Guilherme , Korbonits Marta , Mohnike Klaus , Bryce Jillian , Ahmed Faisal , Voet Bernard , Blankenstein Oliver , van der Grinten Hedi Claahsen

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...

hrp0095p1-136 | Multisystem Endocrine Disorders | ESPE2022

Time Taken to Reach a Diagnosis In Children With XY DSD In Expert Endocrine Centres In Europe

Ali Salma , Bryce Jillian , Hiort Olaf , Verrijn Stuart Annemarie , Cools Martine , Luczay Andrea , De Sanctis Luisa , Baronio Federico , Navardauskaite Ruta , Claahsen-van der Grinten Hedi , Yeste Diego , Gan Hoong-Wei , Persani Luca , Capalbo Donatello , Nordenstrom Anna , Faisal Ahmed S.

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...