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...

hrp0094fc1.3 | Adrenal | ESPE2021

Re-appraising the use of urinary steroid profiles for assessing therapy control in children with 21-hydroxylase deficiency – results from the CAH-UK cohort study

Bacila Irina , Lawrence Neil , Alvi Sabah , Cheetham Timothy , Crowne Elizabeth , Das Urmi , Dattani Mehul , Davies Justin H. , Gevers Evelien , Krone Ruth , Kyriakou Andreas , Patel Leena , Randell Tabitha , Ryan Fiona , Ahmed Faisal S. , Keevil Brian , Taylor Norman , Krone Nils ,

Introduction: Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) have specific plasma and urinary steroid patterns, with 11-oxygenatedC19 steroids established as key adrenal-specific androgens. Monitoring glucocorticoid (GC) replacement remains a challenge in the absence of reliable biomarkers.Aim: To reassess the urinary steroid profile of children with CAH in relation to plasma ...

hrp0097p1-569 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

National service evaluation project analysing the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: Data from patients and clinicians

Bacila Irina , R Lawrence Neil , Ji Xiaochen , Faisal Ahmed S , Alvi Sabah , Bath Louise , Blair Jo , Cheetham Tim , Crowne Liz , H Davies Justin , Dattani Mehul , Gevers Evelien , Krone Ruth , Patel Leena , Thankamony Ajay , Randell Tabitha , Ryan Fiona , Elford Sue , Blackett Sallyann , P Krone Nils

Background: The variation in the provision of services in secondary and tertiary care for children and young people living with CAH in the United Kingdom is unknown. We aimed to conduct a nationwide service evaluation to inform from both the patient and clinician perspective.Methods: We conducted an anonymous multicentre survey using online questionnaires for clinicians and CAH patients/carers. Clinical leads from UK cen...

hrp0094fc1.2 | Adrenal | ESPE2021

Variation of glucocorticoid dose and biomarkers in children with congenital adrenal hyperplasia – longitudinal analysis of real world data from the I-CAH registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , van den Akker Erica LT , Aparecida Sartori Tania , Bachega Sanchez , Baronio Federico , Holtum Birkebaek Niels , Bonfig Walter , Claahsen Hedi , Costa Eduardo Correa , Devries Liat , Elsedfy Heba , Guvan Ayla , Hannema Sabine , Iotova Violeta , van der Kamp Hetty J , Leon Maria Clemente , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Anna , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Sanctis Luisa De , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils ,

Aim: Recommendations for replacement glucocorticoids in CAH suggest a dose per body surface area (BSA) of glucocorticoids of 10-15mg/m2/day to maintain a 17-OH Progesterone (17OHP) level of 12-36 nmol/l across all ages. We used longitudinal analysis to assess whether biomarkers and dose of hydrocortisone varied with age in children within the I-CAH registry .Method: This retrospective multi-centre study, inclu...

hrp0094p1-6 | Adrenal A | ESPE2021

International practice of therapy monitoring in congenital adrenal hyperplasia – Real World data from the I-CAH registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , Akker Erica van den , Bachega Tania Aparecida Sartori Sanchez , Baronio Federico , Birkebaek Niels Holtum , Bonfig Walter , Claahsen Hedi , Costa Eduardo Correa , Devries Liat , Elsedfy Heba , Guven Ayla , Hannema Sabine , Iotova Violeta , Kamp Hetty J van der , Leon Maria Clemente , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Ana , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Sanctis Luisa De , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils ,

Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarke...